المؤلفون: Ader, Flavie, Heide, Solveig, Marzin, Pauline, Afenjar, Alexandra, Diguet, Flavie, Chantot Bastaraud, Sandra, Rollat-Farnier, Pierre-Antoine, Sanlaville, Damien, Portnoï, Marie-France, Siffroi, Jean-Pierre, Schluth-Bolard, Caroline

المساهمون: Maladies génétiques d'expression pédiatrique (U933), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Trousseau APHP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), CHU Trousseau APHP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre de recherche en neurosciences de Lyon - Lyon Neuroscience Research Center (CRNL), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Université Jean Monnet - Saint-Étienne (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Laboratoire de Cytogénétique Constitutionnelle Hospices civils de Lyon, Hospices Civils de Lyon (HCL)

المصدر: ISSN: 1769-7212 ; European Journal of Medical Genetics ; https://hal.science/hal-03489514Test ; European Journal of Medical Genetics, 2020, 63 (4), pp.103776. ⟨10.1016/j.ejmg.2019.103776⟩.

مصطلحات موضوعية: 14q deletion, Chromoanagenesis, Coloboma, Constitutionnal, Genome sequencing, Hypoplastic corpus callosum, Intellectual disability, Microcephaly, [SDV]Life Sciences [q-bio]

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31562959; hal-03489514; https://hal.science/hal-03489514Test; https://hal.science/hal-03489514/documentTest; https://hal.science/hal-03489514/file/S1769721218305949.pdfTest; PII: S1769-7212(18)30594-9; PUBMED: 31562959

الإتاحة: https://doi.org/10.1016/j.ejmg.2019.103776Test
https://hal.science/hal-03489514Test
https://hal.science/hal-03489514/documentTest
https://hal.science/hal-03489514/file/S1769721218305949.pdfTest

المؤلفون: Chih-Ping Chen, Chung-Hu Fu, Schu-Rern Chern, Peih-Shan Wu, Jun-Wei Su, Chen-Chi Lee, Meng-Shan Lee, Wayseen Wang

المصدر: Taiwanese Journal of Obstetrics & Gynecology, Vol 52, Iss 3, Pp 401-406 (2013)

مصطلحات موضوعية: 5p deletion, 14q deletion, microcephaly, nuchal edema, single umbilical artery, Gynecology and obstetrics, RG1-991

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S1028455913001253Test; https://doaj.org/toc/1028-4559Test

الوصول الحر: https://doaj.org/article/bdd9198895e44a7093e5b6b320399655Test

المؤلفون: Waqar M. Naqvi, Chanan Goyal, Vivek Goyal

المصدر: Cureus

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Clinodactyly, goyal-naqvi syndrome, business.industry, General Engineering, Prenatal diagnosis, trisomy 10p, medicine.disease, rare genetic disorder, rare syndrome, Hypotonia, Camptodactyly, Palpebral fissure, Neurology, goyal naqvi syndrome, medicine, terminal 14q deletion, Global developmental delay, medicine.symptom, Hypertelorism, business, Trisomy

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::25fd41ec690e5c31bec4ab48cffe107dTest
https://doi.org/10.7759/cureus.16652Test

المؤلفون: Waqar M. Naqvi, Chanan Goyal, Vivek Goyal

المصدر: Cureus

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Physical Medicine & Rehabilitation, goyal-naqvi syndrome, trisomy 10p, Sitting, rare genetic disorder, Tongue, Medicine, Unusual case, business.industry, Intellectual impairment, General Engineering, medicine.disease, Hypotonia, Discontinuation, medicine.anatomical_structure, Neurology, Terminal (electronics), neurodevelopmental treatment, terminal 14q deletion, sensory integration, medicine.symptom, business, Trisomy

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::046c1db59e3799ae995693a316c4f4e5Test
https://doi.org/10.7759/cureus.15459Test

المؤلفون: Chung-Hu Fu, Jun-Wei Su, Peih-Shan Wu, Meng-Shan Lee, Chih-Ping Chen, Wayseen Wang, Schu-Rern Chern, Chen-Chi Lee

المصدر: Taiwanese Journal of Obstetrics & Gynecology, Vol 52, Iss 3, Pp 401-406 (2013)

مصطلحات موضوعية: Adult, Cri-du-Chat Syndrome, Monosomy, Pathology, medicine.medical_specialty, Microcephaly, Intrauterine growth restriction, Prenatal diagnosis, lcsh:Gynecology and obstetrics, Translocation, Genetic, Ultrasonography, Prenatal, 5p deletion, Pregnancy, 14q deletion, Obstetrics and Gynaecology, nuchal edema, medicine, Edema, Humans, microcephaly, lcsh:RG1-991, Chromosomes, Human, Pair 14, Fetus, Fetal Growth Retardation, medicine.diagnostic_test, Single umbilical artery, Obstetrics, business.industry, single umbilical artery, Obstetrics and Gynecology, medicine.disease, Cord blood, Amniocentesis, Chromosomes, Human, Pair 5, Female, business, Genome-Wide Association Study

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8d40b455f02a3b1002550539faab5e52Test
https://doi.org/10.1016/j.tjog.2013.06.005Test

المؤلفون: Michela Malacarne, Marina Grasso, Mauro Pierluigi, Giovanni Corsello, V. Consiglio, Gregorio Serra, Antonella Di Fiore, Maria Piccione, Chiara Viaggi, Simona Cavani

المساهمون: Piccione, M, Serra, G, Consiglio, V, Di Fiore, A, Cavani, S, Grasso, M, Malacarne, M, Pierluigi, M, Viaggi, C, Corsello, G

المصدر: American Journal of Medical Genetics Part A. :1427-1433

مصطلحات موضوعية: Male, musculoskeletal diseases, congenital, hereditary, and neonatal diseases and abnormalities, Candidate gene, Adolescent, ID/MCA deletion syndrome, Locus (genetics), Microphthalmia, microform, Settore MED/38 - Pediatria Generale E Specialistica, Holoprosencephaly, Intellectual Disability, Intellectual disability, Genetics, medicine, Humans, Microphthalmos, chromosome 14q deletion, In Situ Hybridization, Fluorescence, Genetics (clinical), Sequence Deletion, Chromosomes, Human, Pair 14, Comparative Genomic Hybridization, Coloboma, biology, business.industry, NPAS3, Facies, medicine.disease, eye diseases, Developmental disorder, Phenotype, holoprosencephaly, Settore MED/03 - Genetica Medica, Genetic Loci, array-CGH, biology.protein, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::662c665d885caa15d11fdfdcde686eaaTest
https://doi.org/10.1002/ajmg.a.35334Test

المؤلفون: PICCIONE, Maria, CORSELLO, Giovanni, Serra, G, Consiglio, V, Di Fiore, A, Cavani, S, Grasso, M, Malacarne, M, Pierluigi, M, Viaggi, C

المساهمون: Piccione, M, Serra, G, Consiglio, V, Di Fiore, A, Cavani, S, Grasso, M, Malacarne, M, Pierluigi, M, Viaggi, C, Corsello, G

مصطلحات موضوعية: chromosome 14q deletion, holoprosencephaly, microform, array-CGH, ID/MCA deletion syndrome, Settore MED/38 - Pediatria Generale E Specialistica, Settore MED/03 - Genetica Medica

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/22581785; info:eu-repo/semantics/altIdentifier/wos/WOS:000304133700027; volume:158A; issue:6; firstpage:1427; lastpage:1433; numberofpages:7; journal:AMERICAN JOURNAL OF MEDICAL GENETICS. PART A; http://hdl.handle.net/10447/78670Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84861221240

الإتاحة: https://doi.org/10.1002/ajmg.a.35334Test
http://hdl.handle.net/10447/78670Test

المؤلفون: Papa, F. T., Mencarelli, M. A., Caselli, R., Katzaki, E., Sampieri, K., Meloni, I., Ariani, F., Longo, I., Maggio, A., Balestri, P., Grosso, S., Farnetani, M. A., Berardi, R., Mari, F., Renieri, A.

المساهمون: Papa, F. T., Mencarelli, M. A., Caselli, R., Katzaki, E., Sampieri, K., Meloni, I., Ariani, F., Longo, I., Maggio, A., Balestri, P., Grosso, S., Farnetani, M. A., Berardi, R., Mari, F., Renieri, A.

مصطلحات موضوعية: chromosome 14, array-CGH, 14q deletion, Rett-like feature, FOXG1B gene

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/18627055; info:eu-repo/semantics/altIdentifier/wos/WOS:000258476800014; volume:146A; issue:15; firstpage:1994; lastpage:1998; numberofpages:5; journal:AMERICAN JOURNAL OF MEDICAL GENETICS. PART A; http://hdl.handle.net/11365/1000686Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-49649109919

الإتاحة: https://doi.org/10.1002/ajmg.a.32413Test
http://hdl.handle.net/11365/1000686Test

المؤلفون: Paolo Balestri, Alessandra Renieri, Eleni Katzaki, Maria Antonietta Mencarelli, Katia Sampieri, Rosario Berardi, Francesca Ariani, Angela Maggio, Ilaria Meloni, Ilaria Longo, Salvatore Grosso, Francesca Mari, Filomena Tiziana Papa, Maria Angela Farnetani, Rossella Caselli

المصدر: American journal of medical genetics. Part A. (15)

مصطلحات موضوعية: Pathology, medicine.medical_specialty, Candidate gene, FOXG1B gene, Rett syndrome, Nerve Tissue Proteins, Postnatal microcephaly, Biology, Polymerase Chain Reaction, Craniofacial Abnormalities, 14q deletion, Intellectual Disability, Genetics, medicine, Rett Syndrome, chromosome 14, array-CGH, Rett-like features, Humans, Abnormalities, Multiple, Child, Genetics (clinical), Oligonucleotide Array Sequence Analysis, Chromosomes, Human, Pair 14, Corpus Callosum Agenesis, Neurogenesis, Forkhead Transcription Factors, medicine.disease, Phenotype, Developmental disorder, FOXG1, Karyotyping, Female, Chromosome Deletion

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1090593ba52ee2323f81c36b0868ee82Test
https://pubmed.ncbi.nlm.nih.gov/18627055Test

المؤلفون: Francois Dominique Jacob, Vijay Ramaswamy, John Andersen, Francois V Bolduc

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2987032/pdf/ejhg200995a.pdfTest.

مصطلحات موضوعية: Rett syndrome, FOXG1, chromosome 14, 14q deletion, array-based comparative genomic

وصف الملف: application/pdf

العلاقة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.653.5583Test; http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2987032/pdf/ejhg200995a.pdfTest

الإتاحة: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2987032/pdf/ejhg200995a.pdfTest