المؤلفون: Gerlevik, Umut, Saygı, Ceren, Cangül, Hakan, Kutlu, Aslı, Çaralan, Erdal Fırat, Topçu, Yasemin, Özören, Nesrin, Sezerman, Osman Uğur

مصطلحات موضوعية: Periventricular Nodular Heterotopia, p.Arg484Gln, Filamin-A Variants

الوصف: Background Periventricular nodular heterotopia (PNH) is a cell migration disorder associated with mutations in Filamin-A (FLNA) gene on chromosome X. Majority of the individuals with PNHassociated FLNA mutations are female whereas liveborn males with FLNA mutations are very rare. Fetal viability of the males seems to depend on the severity of the variant. Splicing or severe truncations presumed loss of function of the protein product, lead to male lethality and only partial-loss-of-function variants are reported in surviving males. Those variants mostly manifest milder clinical phenotypes in females and thus avoid detection of the disease in females. Methods We describe a novel p.Arg484Gln variant in the FLNA gene by performing whole exome analysis on the index case, his one affected brother and his healthy non-consanguineous parents. The transmission of PNH from a clinically asymptomatic mother to two sons is reported in a fully penetrant classical X-linked dominant mode. The variant was verified via Sanger sequencing. Additionally, we investigated the impact of missense mutations reported in affected males on the FLNa protein structure, dynamics and interactions by performing molecular dynamics (MD) simulations to examine the disease etiology and possible compensative mechanisms allowing survival of the males. Results We observed that p.Arg484Gln disrupts the FLNa by altering its structural and dynamical properties including the flexibility of certain regions, interactions within the protein, and conformational landscape of FLNa. However, these impacts existed for only a part the MD trajectories and highly similar patterns observed in the other 12 mutations reported in the liveborn males validated this mechanism. Conclusion It is concluded that the variants seen in the liveborn males result in transient pathogenic effects, rather than persistent impairments. By this way, the protein could retain its function occasionally and results in the survival of the males besides causing the disease.

وصف الملف: application/pdf

العلاقة: PLoS ONE; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; Gerlevik, U., Saygı, C., Cangül, H., Kutlu, A., Çaralan, E. F., Topçu, Y. . Sezerman, O. U. (2022). Computational analysis of missense filamin-A variants, including the novel p.Arg484Gln variant of two brothers with periventricular nodular heterotopia. PLoS ONE, 17(5). https://doi.org/10.1371/journal.pone.0265400Test; https://doi.org/10.1371/journal.pone.0265400Test; https://hdl.handle.net/20.500.12511/9975Test; 17; Q2; 000877056800001; 2-s2.0-85130882345; Q1

الإتاحة: https://doi.org/20.500.12511/9975Test
https://doi.org/10.1371/journal.pone.0265400Test
https://hdl.handle.net/20.500.12511/9975Test

المؤلفون: Cangül, Hakan, Liao, Xiao-Hui, Schoenmakers, Erik, Kero, Jukka, Barone, Sharon, Srichomkwun, Panudda, Lwayama, Hideyuki, Serra, Eva G., Sağlam, Halil, Eren, Erdal, Tarım, Ömer, Nicholas, Adeline K., Zvetkova, Ilona, Anderson, Carl A., Frankl, Fiona E. Karet, Boelaert, Kristien, Ojaniemi, Marja, Jaaskelainen, Jarmo, Patyra, Konrad, Lof, Christoffer, Williams, E. Dillwyn, Consortium, Ukk, Soleimani, Manoocher, Barrett, Timothy, Maher, Eamonn R., Chatterjee, V. Krishna, Refetoff, Samuel, Schoenmakers, Nadia

مصطلحات موضوعية: Vestibular Aqueduct, Hearing Loss, Aqueduct EVA

الوصف: WOS: 000447709700003 ; PubMed ID: 30333321 ; Defects in genes mediating thyroid hormone biosynthesis result in dyshormonogenic congenital hypothyroidism (CH). Here, we report homozygous truncating mutations in SLC26A7 in 6 unrelated families with goitrous CH and show that goitrous hypothyroidism also occurs in Slc26a7-null mice. In both species, the gene is expressed predominantly in the thyroid gland, and loss of function is associated with impaired availability of iodine for thyroid hormone synthesis, partially corrected in mice by iodine supplementation. SLC26A7 is a member of the same transporter family as SLC26A4 (pendrin), an anion exchanger with affinity for iodide and chloride (among others), whose gene mutations cause congenital deafness and dyshormonogenic goiter. However, in contrast to pendrin, SLC26A7 does not mediate cellular iodide efflux and hearing in affected individuals is normal. We delineate a hitherto unrecognized role for SLC26A7 in thyroid hormone biosynthesis, for which the mechanism remains unclear. ; Wellcome Trust; NIDDK NIH HHS [R37 DK015070, R01 DK015070]; Medical Research Council [MC_UU_12012/5, G0600717, G0502115]

وصف الملف: application/pdf

العلاقة: JCI Insight; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; Cangül, H., Liao, X., Schoenmakers, E., Kero, J., Barone, S., Srichomkwun, P. . Schoenmakers, N. (2018). Homozygous loss-of-function mutations in SLC26A7 cause goitrous congenital hypothyroidism. JCI Insight, 3(20). https://dx.doi.org/10.1172/jci.insight.99631Test; https://dx.doi.org/10.1172/jci.insight.99631Test; https://hdl.handle.net/20.500.12511/1873Test; 20

الإتاحة: https://doi.org/20.500.12511/1873Test
https://doi.org/10.1172/jci.insight.99631Test
https://hdl.handle.net/20.500.12511/1873Test

المؤلفون: Aycan, Zehra, Cangül, Hakan, Muzza, Marina, Bas, Veysel N., Fugazzola, Laura, Chatterjee, V. Krishna, Persani, Luca, Schoenmakers, Nadia

مصطلحات موضوعية: Digenic DUOX1, DUOX2, Mutations, Congenital Hypothyroidism

الوصف: WOS: 000409352800001 ; PubMed ID: 28633507 ; Context: The DUOX2 enzyme generates hydrogen peroxide (H2O2), a crucial electron acceptor for the thyroid peroxidase-catalyzed iodination and coupling reactions mediating thyroid hormone biosynthesis. DUOX2 mutations result in dyshormonogenetic congenital hypothyroidism (CH) that may be phenotypically heterogeneous, leading to the hypothesis that CH severity may be influenced by environmental factors (e.g., dietary iodine) and oligogenic modifiers (e.g., variants in the homologous reduced form of NAD phosphate-oxidase DUOX1). However, loss-of-function mutations in DUOX1 have not hitherto been described, and its role in thyroid biology remains undefined. Case Description: We previously described a Proband and her brother (P1, P2) with unusually severe CH associated with a DUOX2 homozygous nonsense mutation (p.R434(star)); P1, P2: thyrotropin >100 mu U/mL [reference range (RR) 0.5 to 6.3]; and P1: free T4 (FT4) <0.09 ng/dL (RR 0.9 to 2.3). Subsequent studies have revealed a homozygous DUOX1 mutation (c.1823-1G>C) resulting in aberrant splicing and a protein truncation (p.Val607Aspfs(star)43), which segregates with CH in this kindred. Conclusion: This is a report of digenic mutations in DUOX1 and DUOX2 in association with CH, and we hypothesize that the inability of DUOX1 to compensate for DUOX2 deficiency in this kindred may underlie the severe CH phenotype. Our studies provide evidence for a digenic basis for CH and support the notion that oligogenicity as well as environmental modulators may underlie phenotypic variability in genetically ascertained CH. ; Wellcome Trust [100585/Z/12/Z, 095564/Z/11/Z]; National Institutes for Health Research Cambridge Biomedical Research Centre; Italian Ministry of Health [RF-2010-2309484]; TUBITAK: The Scientific and Technological Research Council of Turkey [214S637] ; This work was supported by Wellcome Trust Grants 100585/Z/12/Z (to N.S.) and 095564/Z/11/Z (to V.K.C.); National Institutes for Health Research Cambridge ...

وصف الملف: application/pdf

العلاقة: Journal of Clinical Endocrinology & Metabolism; info:eu-repo/grantAgreement/TUBITAK/SOBAG/214S637; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; Aycan, Z., Cangül, H., Muzza, M., Bas, V. N., Fugazzola, L., Chatterjee, V. K. … Schoenmakers, N. (2017). Digenic DUOX1 and DUOX2 mutations in cases with congenital hypothyroidism. Journal of Clinical Endocrinology & Metabolism, 102(9), 3085-3090. https://dx.doi.org/10.1210/jc.2017-00529Test; https://dx.doi.org/10.1210/jc.2017-00529Test; https://hdl.handle.net/20.500.12511/3026Test; 102; 3085; 3090; Q1

الإتاحة: https://doi.org/20.500.12511/3026Test
https://doi.org/10.1210/jc.2017-00529Test
https://hdl.handle.net/20.500.12511/3026Test

المؤلفون: Nicholas, Adeline K., Serra, Eva Goncalves, Cangül, Hakan, Al-Yaarubi, Saif, Ullah, Irfan, Schoenmakers, Erik, Deeb, Asma, Habeb, Abdelhadi M., Almaghamsi, Mohammad, Peters, Catherine, Nathwani, Nisha, Aycan, Zehra, Sağlam, Halil, Bober, Ece, Dattani, Mehul, Shenoy, Savitha, Murray, Philip G., Babiker, Amir, Willemsen, Ruben, Thankamony, Ajay, Lyons, Greta, Irwin, Rachael, Padidela, Raja, Tharian, Kavitha, Davies, Justin Huw, Puthi, Vijith, Park, Soo-Mi, Massoud, Ahmed F., Gregory, John W., Albanese, Assunta, Pease-Gevers, Evelien, Martin, Howard, Brugger, Kim, Maher, Eamonn R., Chatterjee, V. Krishna K., Anderson, Carl A., Schoenmakers, Nadia

مصطلحات موضوعية: Congenital Hypothyroidism, Genetic Screening, Gene

الوصف: WOS: 000390951000004 ; PubMed ID: 27525530 ; Context: Lower TSH screening cutoffs have doubled the ascertainment of congenital hypothyroidism (CH), particularly cases with a eutopically located gland-in-situ (GIS). Although mutations in known dyshormonogenesis genes or TSHR underlie some cases of CH with GIS, systematic screening of these eight genes has not previously been undertaken. Objective: Our objective was to evaluate the contribution and molecular spectrum of mutations in eight known causative genes (TG, TPO, DUOX2, DUOXA2, SLC5A5, SLC26A4, IYD, and TSHR) in CH cases with GIS. Patients, Design, and Setting:We screened 49 CH cases with GIS from 34 ethnically diverse families, using next-generation sequencing. Pathogenicity of novel mutations was assessed in silica. Results: Twenty-nine cases harbored likely disease-causing mutations. Monogenic defects (19 cases) most commonly involved TG (12), TPO (four), DUOX2 (two), and TSHR (one). Ten cases harbored triallelic (digenic) mutations: TG and TPO (one); SLC26A4 and TPO (three), and DUOX2 and TG (six cases). Novel variants overall included 15 TG, six TPO, and three DUOX2 mutations. Genetic basis was not ascertained in 20 patients, including 14 familial cases. Conclusions: The etiology of CH with GIS remains elusive, with only 59% attributable to mutations in TSHR or known dyshormonogenesis-associated genes in a cohort enriched for familial cases. Biallelic TG or TPO mutations most commonly underlie severe CH. Triallelic defects are frequent, mandating future segregation studies in larger kindreds to assess their contribution to variable phenotype. A high proportion (-41%) of unsolved or ambiguous cases suggests novel genetic etiologies that remain to be elucidated. ; Wellcome Trust [100585/Z/12/Z, 095564/Z/11/Z, 098051, WT091310]; National Institute for Health Research Cambridge Biomedical Research Center; Medical Research Council [MC_UU_12012/5/B] ; This work was supported by Wellcome Trust Grants 100585/Z/12/Z (to N.S.), and 095564/Z/11/Z (to V.K.C.); the ...

وصف الملف: application/pdf

العلاقة: Journal Of Clinical Endocrinology & Metabolism; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; Nicholas, A. K., Serra, E. G., Cangül, H., Al-Yaarubi, S., Ullah, I., Schoenmakers, E. . Schoenmakers, N. (2016). Comprehensive screening of eight known causative genes in congenital hypothyroidism with gland-in-situ. Journal Of Clinical Endocrinology & Metabolism, 101(12), 4521-4531. https://dx.doi.org/10.1210/jc.2016-1879Test; https://dx.doi.org/10.1210/jc.2016-1879Test; https://hdl.handle.net/20.500.12511/3027Test; 101; 12; 4521; 4531; Q1

الإتاحة: https://doi.org/20.500.12511/3027Test
https://doi.org/10.1210/jc.2016-1879Test
https://hdl.handle.net/20.500.12511/3027Test

المؤلفون: Brugger, Kim, Maher, Eamonn R., Chatterjee, V. Krishna K., Anderson, Carl A., Schoenmakers, Nadia, CANGÜL, HAKAN, Alyaarubi, Saif, Ullah, Irfan, Deeb, Asma, Habeb, Abdelhadi M., Almaghamsi, Mohammad, Aycan, Zehra, SAĞLAM, HALİL, BÖBER, ECE, Babiker, Amir, Nicholas, Adeline K., Serra, Eva G., Schoenmakers, Erik, Peters, Catherine, Nathwani, Nisha, Dattani, Mehul, Shenoy, Savitha, Murray, Philip G., Willemsen, Ruben, Thankamony, Ajay, Lyons, Greta, Irwin, Rachael, Padidela, Raja, Tharian, Kavitha, Davies, Justin H., Puthi, Vijith, Park, Soo-Mi, Massoud, Ahmed F., Gregory, John W., Albanese, Assunta, Pease-Gevers, Evelien, Martin, Howard

الوصف: Context: Lower TSH screening cutoffs have doubled the ascertainment of congenital hypothyroidism (CH), particularly cases with a eutopically located gland-in-situ (GIS). Although mutations in known dyshormonogenesis genes or TSHR underlie some cases of CH with GIS, systematic screening of these eight genes has not previously been undertaken.

العلاقة: a9be71ee-4f58-47c1-9dfb-ba7f09647e55; https://avesis.deu.edu.tr/publication/details/a9be71ee-4f58-47c1-9dfb-ba7f09647e55/oaiTest

الإتاحة: https://doi.org/10.1210/jc.2016-1879Test
https://avesis.deu.edu.tr/publication/details/a9be71ee-4f58-47c1-9dfb-ba7f09647e55/oaiTest

المؤلفون: Cangül, Hakan, Demir, Korcan, Babayiğit, Ömür, Abacı, Ayhan, Böber, Ece

مصطلحات موضوعية: Congenital Hypothyroidism, Thyroid Dyshormonogenesis, Thyroid Peroxidase

الوصف: WOS: 000360842500013 ; PubMed ID: 26831560 ; Congenital hypothyroidism (CH) occurs with a prevalence of approximately 1:4000 live births. Defects of thyroid hormone synthesis account for 15-20% of these cases. Thyroid peroxidase (TPO) gene is the most common cause for dyshormonogenesis. So far, more than 60 mutations in the TPO gene have been described, resulting in a variable decrease in TPO bioactivity. We present an 8-day-old male with mild CH who was identified to have a G to A transition in the fifth codon of the TPO gene (c.13G>A; p.Ala5Thr). The unaffected family members were heterozygous carriers of the mutation, whereas 400 healthy individuals of the same ethnic background did not have the mutation. Mutation analysis of 11 known causative CH genes and 4 of our own strong candidate genes with next-generation sequencing revealed no mutations in the patient nor in any other family members. The results of in silico functional analyses indicated partial loss-of-function (LOF) in the resulting enzyme molecule due to mutation. The patient's clinical finding s were consistent with the effect of this partial LOF of the mutation. In conclusion, we strongly believe that A5T alteration in the TPO gene is actually pathogenic and suggest that it should be classified as a mutation.

وصف الملف: application/pdf

العلاقة: Journal of Clinical Research in Pediatric Endocrinology; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; Cangül, H., Demir, K., Babayiğit, Ö., Abacı, A. ve Böber, E. (2015). The missense alteration A5T of the thyroid peroxidase gene is pathogenic and associated with mild congenital hypothyroidism. Journal of Clinical Research in Pediatric Endocrinology, 7(3), 238-241. https://dx.doi.org/10.4274/jcrpe.2017Test; https://dx.doi.org/10.4274/jcrpe.2017Test; https://hdl.handle.net/20.500.12511/3038Test; 238; 241; Q3; Q2

الإتاحة: https://doi.org/20.500.12511/3038Test
https://doi.org/10.4274/jcrpe.2017Test
https://hdl.handle.net/20.500.12511/3038Test

المؤلفون: Güçlü, Metin, Cangül, Hakan, Ersoy, Canan

مصطلحات موضوعية: Apeced, APS I, Hypoparathyroidism, Candidiasis, AIRE Gene, OPS I, Hipoparatiroidizm, Kandidiyazis, AIRE Geni

الوصف: WOS: 000362601700004 ; Purpose: Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare autoimmune disease which is caused by mutations in the autoimmune regulator (AIRE) gene, mapping to 21q22.3. We aimed to evaluate AIRE gene mutations in patients with APECED syndrome and in their relatives. Material and Method: In this study, we investigated two patients with APECED syndrome and their families in terms of the AIRE gene mutation. We performed mutation analysis by sequencing all the 14 exons and the intron-exon boundaries of the AIRE gene on the DNA extracted from the peripheral blood in 12 cases. Results: Mutation analysis of AIRE gene showed that patient 1 was homozygous for the pathogenic mutation c.769C>T (p.R257X; g.8473C>T) which turns arginine coding codon 257 into a stop codon. Her father and all three sisters were heterozygous for this mutation, and no mutation was found in patient 2 and her family members. Discussion: However phenotypic manifestations of the disease vary largely, prompting the idea of other genetic and/or environmental factors contributing to clinical presentation of the disease. The R257X mutation in exon 6 has been discovered in 89% of the alleles of the Finnish patients with APECED, but is also the most frequent one in other ethnic groups. Although this mutation has been discovered in different ethnic groups, patients with R257X mutation have similar clinical findings. The significance of our cases arises from the fact that this mutation (R257X) is demonstrated in our ethnical group and geographical area for the first time. ; Amaç: Otoimmün poliendokrinopati-kandidiyazis-ektodermal displazi sendromu (APECED sendromu, OPS I) otoimmün regülatör genin (AIRE geni) 21q22.3 bölgesinde ortaya çıkan mutasyonun sebep olduğu nadir görülen bir otoimmün hastalıktır. Bu çalışmamızda APECED sendromlu iki hasta ile onların ailelerinde AIRE gen mutasyonunu araştırmayı amaçladık. Gereç ve Yöntem: Bu çalışmada APECED sendromlu birer olgunun bulunduğu iki Türk ailede ...

وصف الملف: application/pdf

العلاقة: Turkish Journal of Endocrinology and Metabolism; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; Güçlü, M., Cangül, H. ve Ersoy, C. (2015). Strong similarities in Turkish and European patients diagnosed with APECED syndrome. Turkish Journal of Endocrinology and Metabolism, 19(3), 89-92. https://dx.doi.org/10.4274/tjem.2987Test; https://dx.doi.org/10.4274/tjem.2987Test; https://hdl.handle.net/20.500.12511/3925Test; 19; 89; 92; Q4

الإتاحة: https://doi.org/20.500.12511/3925Test
https://doi.org/10.4274/tjem.2987Test
https://hdl.handle.net/20.500.12511/3925Test

المؤلفون: Cangül, Hakan, Doğan, Murat, Üstek, Duran

مصطلحات موضوعية: Thyroid Peroxidase, Gene, Mutation, Genetics, Molecular, Congenital Hypothyroidism, Thyroid Dyshormonogenesis

الوصف: WOS: 000367653300010 ; PubMed ID: 26777044 ; Objective: Congenital hypothyroidism (CH) is the most common neonatal endocrine disorder, and mutations in the thyroid peroxidase (TPO) gene have been reported to cause the disease. Our aim in this study was to determine the genetic basis of CH in two affected children coming from a consanguineous family. Methods: First, we investigated the potential genetic linkage of the family to any known CH locus using microsatellite markers and then screened for mutations in the linked gene by Sanger sequencing. By using next-generation sequencing, we also checked if any other mutation was present in the remaining 10 causative CH genes. Results: The family showed potential linkage to the TPO gene, and we detected a homozygous nonsense mutation (R540X) in both cases. The two patients had total iodide organification defect (TIOD). Both the microsatellite marker haplotypes and the mutation segregated with the disease status in the family, i.e. all healthy subjects were either heterozygous carriers or homozygous wild-type, confirming the pathogenic nature of the mutation. Neither was the mutation present in any of the 400 control chromosomes nor were there any other mutations in the remaining causative CH genes. Conclusion: This study proves the pathogenicity of R540X mutation and demonstrates the strong genotype/phenotype correlation associated with this mutation. It also highlights the power of working with familial cases in revealing the molecular basis of CH and in establishing accurate genotype/phenotype relationships associated with disease causing mutations.

وصف الملف: application/pdf

العلاقة: Journal of Clinical Research in Pediatric Endocrinology; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; Cangül, H., Doğan, M. ve Üstek, D. (2015). A homozygous nonsense thyroid peroxidase mutation (R540X) consistently causes congenital hypothyroidism in two siblings born to a consanguineous family.Journal of Clinical Research in Pediatric Endocrinology, 7(4), 323-328. https://dx.doi.org/10.4274/jcrpe.1920Test; https://dx.doi.org/10.4274/jcrpe.1920Test; https://hdl.handle.net/20.500.12511/3037Test; 323; 328; Q3; Q2

الإتاحة: https://doi.org/20.500.12511/3037Test
https://doi.org/10.4274/jcrpe.1920Test
https://hdl.handle.net/20.500.12511/3037Test

المؤلفون: Cangül, Hakan, Aydın, Banu, Baş, Firdevs

مصطلحات موضوعية: TPO, Mutation, Genetics, Duplication, Congenital Hypothyroidism, Thyroid Dyshormonogenesis

الوصف: WOS: 000218770800002 ; PubMed ID: 27617131 ; Congenital hypothyroidism (CH) is the most common neonatal endocrine disease, and germ-line mutations in the TPO gene cause the inherited form of the disease. Our aim in this study was to determine the genetic basis of congenital hypothyroidism in three affected children coming from a consanguineous Turkish family. Because CH is usually inherited in autosomal recessive manner in consanguineous/multicase families, we adopted a two-stage strategy of genetic linkage studies and targeted sequencing of the candidate genes. First, we investigated the potential genetic linkage of the family to any known CH locus, using microsatellite markers, and then screened for mutations in linked-gene by conventional sequencing. The family showed potential linkage to the TPO gene and we detected a homozygous duplication (c. 1184_1187dup4) in all cases. The mutation segregated with disease status in the family. This study confirms the pathogenicity of the c. 1184_1187dup4 mutation in the TPO gene and helps establish a genotype/phenotype correlation associated with this mutation. It also highlights the importance of molecular genetic studies in the definitive diagnosis and accurate classification of CH.

وصف الملف: application/pdf

العلاقة: Journal of Pediatric Genetics; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; Cangül, H., Aydın, B. ve Baş, F. (2015). A homozygous TPO gene duplication (c. 1184_1187dup4) causes congenital hypothyroidism in three siblings born to a consanguineous family. Journal of Pediatric Genetics, 4(4), 194-198. https://dx.doi.org/10.1055/s-0035-1565268Test; https://dx.doi.org/10.1055/s-0035-1565268Test; https://hdl.handle.net/20.500.12511/3272Test; 194; 198

الإتاحة: https://doi.org/20.500.12511/3272Test
https://doi.org/10.1055/s-0035-1565268Test
https://hdl.handle.net/20.500.12511/3272Test

المؤلفون: Cangül, Hakan

المساهمون: Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Genetik Anabilim Dalı., orcid:0000-0002-9802-0880, orcid:0000-0001-7707-2174, orcid:0000-0003-3516-0082, Temel, Şehime Gülsün, Bostan, Özlem Mehtap, Çil, Ergün, AAG-8385-2021, AAG-9324-2021, AAG-8558-2021, 6507885442, 8676936500, 35587943300

مصطلحات موضوعية: Neurosciences & neurology, Deafness, Children, Clinical neurology, Potassium Channels, Jervell-Lange Nielsen Syndrome, Torsade Des Pointes, Echocardiography, Exercise test, Faintness, Family history, Hearing impairment, Heart depolarization, Holter monitoring, Human, Letter, Long QT syndrome, Turkey (republic)

وصف الملف: application/pdf

العلاقة: Makale - Uluslararası Hakemli Dergi; Annals of Indian Academy of Neurology; Yurt dışı; Yurt içi; Temel, Ş. G. vd. (2013). “Turkish perspective of Jervell and Lange-Nielsen syndrome”. Annals of Indian Academy of Neurology, 16(1), 129-130.; https://doi.org/10.4103/0972-2327.107703Test; https://journals.lww.com/annalsofian/Fulltext/2013/16010/Turkish_perspective_of_Jervell_and_Lange_Nielsen.29.aspxTest; http://hdl.handle.net/11452/32646Test; 000316907100029; 2-s2.0-84875695272; 129; 130; 16

الإتاحة: https://doi.org/10.4103/0972-2327.107703Test
http://hdl.handle.net/11452/32646Test
https://journals.lww.com/annalsofian/Fulltext/2013/16010/Turkish_perspective_of_Jervell_and_Lange_Nielsen.29.aspxTest