المؤلفون: Lima, Ariadne R, Ferreira, Barbara M, Zhang, Chaofan, Jolly, Angad, Du, Haowei, White, Janson J, Dawood, Moez, Lins, Tulio C, Chiabai, Marcela A, Beusekom, Ellen, Cordoba, Mara S, Rosa, Erica CC Caldas, Kayserili, Hulya, Kimonis, Virginia, Wu, Erica, Mellado, Cecilia, Aggarwal, Vineet, Richieri‐Costa, Antonio, Brunoni, Décio, Canó, Talyta M, Jorge, Alexander AL, Kim, Chong A, Honjo, Rachel, Bertola, Débora R, Dandalo‐Girardi, Raissa M, Bayram, Yavuz, Gezdirici, Alper, Yilmaz‐Gulec, Elif, Gumus, Evren, Yilmaz, Gülay C, Okamoto, Nobuhiko, Ohashi, Hirofumi, Coban–Akdemir, Zeynep, Mitani, Tadahiro, Jhangiani, Shalini N, Muzny, Donna M, Regattieri, Neysa AP, Pogue, Robert, Pereira, Rinaldo W, Otto, Paulo A, Gibbs, Richard A, Ali, Bassam R, Bokhoven, Hans, Brunner, Han G, Sutton, V Reid, Lupski, James R, Vianna‐Morgante, Angela M, Carvalho, Claudia MB, Mazzeu, Juliana F

المصدر: Human Mutation. 43(7)

مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Clinical Research, Pediatric, Congenital Structural Anomalies, Aetiology, 2.1 Biological and endogenous factors, Craniofacial Abnormalities, Dwarfism, Genes, Recessive, Humans, Limb Deformities, Congenital, Male, Phenotype, Receptor Tyrosine Kinase-like Orphan Receptors, Urogenital Abnormalities, chromosome microarray analysis, craniofacial morphology, exonic deletion, HPO terms, next-generation sequencing, quantitative phenotyping cluster heatmap, skeletal dysplasia, WNT pathway, Clinical Sciences, Genetics & Heredity, Clinical sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/8bd0s4d7Test

المؤلفون: Zhao, Piming, Liu, Isaac, Hodgin, Jeffrey, Benke, Peter, Selva, Jeremy, Torta, Federico, Wenk, Markus, Endrizzi, James, West, Olivia, Ou, Weixing, Tang, Emily, Goh, Denise, Tay, Stacey, Yap, Hui-Kim, Loh, Alwin, Weaver, Nicole, Sullivan, Bonnie, Larson, Austin, Cooper, Megan, Alhasan, Khalid, Alangari, Abdullah, Salim, Suha, Gumus, Evren, Chen, Karin, Zenker, Martin, Hildebrandt, Friedhelm, Saba, Julie

المصدر: Journal of Inherited Metabolic Disease. 43(5)

مصطلحات موضوعية: SGPL1, SPL insufficiency syndrome, pyridoxal 5′-phosphate, sphingolipidosis, sphingosine phosphate lyase, sphingosine-1-phosphate, vitamin B6, Adrenal Insufficiency, Aldehyde-Lyases, Biomarkers, Dietary Supplements, Fibroblasts, Humans, Lymphopenia, Mutation, Nephrosis, Phosphates, Syndrome, Vitamin B 6

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/0zr003crTest

المؤلفون: Wang, Jiyong, Foroutan, Aidin, Richardson, Ellen, Skinner, Steven A., Reilly, Jack, Kerkhof, Jennifer, Curry, Cynthia J., Tarpey, Patrick S., Robertson, Stephen P., Maystadt, Isabelle, Keren, Boris, Dixon, Joanne W., Skinner, Cindy, Stapleton, Rachel, Ruaud, Lyse, Gumus, Evren, Lakeman, Phillis, Alders, Mariëlle, Tedder, Matthew L., Schwartz, Charles E., Friez, Michael J., Sadikovic, Bekim, Stevenson, Roger E.

المصدر: Wang , J , Foroutan , A , Richardson , E , Skinner , S A , Reilly , J , Kerkhof , J , Curry , C J , Tarpey , P S , Robertson , S P , Maystadt , I , Keren , B , Dixon , J W , Skinner , C , Stapleton , R , Ruaud , L , Gumus , E , Lakeman , P , Alders , M , Tedder , M L , Schwartz , C E , Friez , M J , Sadikovic , B & Stevenson , R ....

العلاقة: https://research.vumc.nl/en/publications/997b99b3-f07d-4718-b2bd-8befa9f38299Test

الإتاحة: https://doi.org/10.1038/s41431-023-01499-2Test
https://doi.org/10.1038/s41431-021-01018-1Test
https://research.vumc.nl/en/publications/997b99b3-f07d-4718-b2bd-8befa9f38299Test
https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85178482395&origin=inwardTest
https://www.ncbi.nlm.nih.gov/pubmed/38040915Test

المؤلفون: Marchi, Margherita, D'Amato, Ilaria, Andelic, Mirna, Cartelli, Daniele, Salvi, Erika, Lombardi, Raffaella, Gumus, Evren, Lauria, Giuseppe

المساهمون: M. Marchi, I. D'Amato, M. Andelic, D. Cartelli, E. Salvi, R. Lombardi, E. Gumu, G. Lauria

مصطلحات موضوعية: Settore MED/26 - Neurologia

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34799533; info:eu-repo/semantics/altIdentifier/wos/WOS:000811723900008; volume:163; firstpage:882; lastpage:887; numberofpages:6; journal:PAIN; http://hdl.handle.net/2434/885724Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85132133442

الإتاحة: https://doi.org/10.1097/j.pain.0000000000002535Test
http://hdl.handle.net/2434/885724Test

المؤلفون: LaForce, Geneva R., Farr, Jordan S., Liu, Jingyi, Akesson, Cydni, Gumus, Evren, Pinkard, Otis, Miranda, Helen C., Johnson, Katherine, Sweet, Thomas J., Ji, Ping, Lin, Ai, Coller, Jeff, Philippidou, Polyxeni, Wagner, Eric J., Schaffer, Ashleigh E.

المساهمون: University of Texas Medical Branch, Case Western Reserve University, Mt. Sinai Health Care Foundation, China Scholarship Council, National Institutes of Health

المصدر: Neuron ; volume 110, issue 8, page 1340-1357.e7 ; ISSN 0896-6273

الإتاحة: https://doi.org/10.1016/j.neuron.2022.01.018Test
https://api.elsevier.com/content/article/PII:S0896627322000575?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0896627322000575?httpAccept=text/plainTest

المؤلفون: Wang, Ying, Gumus, Evren, Hekimi, Siegfried

المساهمون: Canadian Institutes of Health Research

المصدر: Molecular Genetics and Metabolism Reports ; volume 31, page 100877 ; ISSN 2214-4269

مصطلحات موضوعية: Endocrinology, Genetics, Molecular Biology

الإتاحة: https://doi.org/10.1016/j.ymgmr.2022.100877Test
https://api.elsevier.com/content/article/PII:S2214426922000374?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2214426922000374?httpAccept=text/plainTest

المؤلفون: Dincer, Tuba, Gumus, Evren, Toraman, Bayram, Idris, Er, Yildiz, Gokhan, Yuksel, Zafer, Kalay, Ersan

المصدر: AMERICAN JOURNAL OF MEDICAL GENETICS PART A 185(6) 1691-1699

العلاقة: https://aperta.ulakbim.gov.tr/record/238486Test; oai:aperta.ulakbim.gov.tr:238486

الإتاحة: https://aperta.ulakbim.gov.tr/record/238486Test

المؤلفون: Marchi, Margherita, D'Amato, Ilaria, Andelic, Mirna, Cartelli, Daniele, Salvi, Erika, Lombardi, Raffaella, Gumus, Evren, Lauria, Giuseppe

المصدر: Pain ; volume 163, issue 7, page e882-e887 ; ISSN 0304-3959 1872-6623

الإتاحة: https://doi.org/10.1097/j.pain.0000000000002535Test

المؤلفون: Abdelfattah, Fatima, Kariminejad, Ariana, Kahlert, Anne-Karin, Morrison, Patrick J, Gumus, Evren, Mathews, Katherine D, Darbro, Benjamin W, Amor, David J, Walsh, Maie, Sznajer, Yves, Weiß, Luisa, Weidensee, Sabine, Chitayat, David, Shannon, Patrick, Bermejo-Sánchez, Eva, Riaño-Galán, Isolina, Hayes, Ian, Poke, Gemma, Rooryck, Caroline, Pennamen, Perrine, Khung-Savatovsky, Suonavy, Toutain, Annick, Vuillaume, Marie-Laure, Ghaderi-Sohi, Siavash, Kariminejad, Mohamad H, Weinert, Sönke, Sticht, Heinrich, Zenker, Martin, Schanze, Denny

المساهمون: UCL - SSS/IREC/SLUC - Pôle St.-Luc, UCL - (SLuc) Centre de génétique médicale UCL

المصدر: Human mutation, Vol. 41, no.9, p. 1615-1628 (2020)

مصطلحات موضوعية: Neu-Laxova syndrome, PHGDH, PSAT1, autosomal recessive, genotype-phenotype correlation, l-serine biosynthesis

العلاقة: boreal:250213; http://hdl.handle.net/2078.1/250213Test; info:pmid/32579715; urn:ISSN:1059-7794; urn:EISSN:1098-1004

الإتاحة: https://doi.org/10.1002/humu.24067Test
http://hdl.handle.net/2078.1/250213Test

المؤلفون: Ahn, Lucie Y., Coatti, Giuliana C., Liu, Jingyi, Gumus, Evren, Schaffer, Ashleigh E., Miranda, Helen C.

المساهمون: National Institute of Child Health and Human Development, National Institute of Neurological Disorders and Stroke

المصدر: Journal of Neuroscience Research ; volume 99, issue 1, page 110-123 ; ISSN 0360-4012 1097-4547

الإتاحة: https://doi.org/10.1002/jnr.24747Test