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المؤلفون: Monica Penon‐Portmann, Mohammad K. Eldomery, Lorraine Potocki, Dana Marafi, Jennifer E. Posey, Zeynep Coban‐Akdemir, Tamar Harel, Christopher M. Grochowski, Hailey Loucks, Walter Patrick Devine, Jessica Van Ziffle, Dan Doherty, James R. Lupski, Joseph T. Shieh
المصدر: American Journal of Medical Genetics Part A. 188:2360-2366
مصطلحات موضوعية: Proteomics, Kidney Diseases, Cystic, Megalencephaly, Retina, Polydactyly, Zinc, Cerebellum, Genetics, Humans, Abnormalities, Multiple, Ataxia, Female, Hedgehog Proteins, Eye Abnormalities, Cation Transport Proteins, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ad4c75a2c06746d400fd9576a5035f5Test
https://doi.org/10.1002/ajmg.a.62872Test -
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المؤلفون: Hannah Kortbawi, Elizabeth Ames, Amanda Pritchard, Patrick Devine, Jessica van Ziffle, Anne Slavotinek
المصدر: American Journal of Medical Genetics Part A. 188:2479-2484
مصطلحات موضوعية: Genetics, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::dce303c36e52c18742e68dd3018b406fTest
https://doi.org/10.1002/ajmg.a.62765Test -
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المؤلفون: Anne Slavotinek, Jessica Van Ziffle, Orit A. Glen, Pierre-Marie Martin, Tiffany Yip, Kathleen Barrus, Shannon Rego
المصدر: American Journal of Medical Genetics Part A. 182:2959-2963
مصطلحات موضوعية: 0301 basic medicine, Pathology, medicine.medical_specialty, business.industry, Macrocephaly, Splenium, 030105 genetics & heredity, Corpus callosum, Hypotonia, 03 medical and health sciences, 030104 developmental biology, medicine.anatomical_structure, NFIB, Genetics, medicine, medicine.symptom, Haploinsufficiency, business, Cavum septum pellucidum, Genetics (clinical), Exome sequencing
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::53af59a4c9d2170be3ac88d8eeb039c6Test
https://doi.org/10.1002/ajmg.a.61852Test -
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المؤلفون: Joseph T. Shieh, Pierre-Marie Martin, Norah Alsaleh, Daniah Beleford, Zuhair Rahbeeni, Shannon Rego, Fowzan S. Alkuraya, Jessica Van Ziffle, Alyssa Huang, Aya Abu-El-Haija, Anne Slavotinek, Bryce A. Mendelsohn, Neil Risch, Gina Capodanno
المصدر: American Journal of Medical Genetics Part A. 182:513-520
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Microcephaly, business.industry, Trichothiodystrophy, 030105 genetics & heredity, medicine.disease, Short stature, Dermatology, Hypogammaglobulinemia, RNF113A, 03 medical and health sciences, 030104 developmental biology, Hypergonadotropic hypogonadism, Failure to thrive, Genetics, medicine, medicine.symptom, business, Genetics (clinical), Exome sequencing
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::85683d2e04a6c1090f0b0a094508e047Test
https://doi.org/10.1002/ajmg.a.61450Test