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American Journal of Medical Genetics. Part A|June 26, 2015
Dandy-Walker malformation, genitourinary abnormalities, and intellectual disability in two familiesMaha S Zaki, Amira Masri, Anne Gregor, et al.American Journal of Medical Genetics. Part A|February 19, 2015
Novel STAMBP mutation and additional findings in an Arabic familyEissa A Faqeih, Laila Bastaki, Rasim Ozgur Rosti, et al.Journal of Medical Genetics|March 11, 2017
Homozygous mutation in <i>NUP107</i> leads to microcephaly with steroid-resistant nephrotic condition similar to Galloway-Mowat syndromeRasim Ozgur Rosti, Bethany N Sotak, Stephanie L Bielas, et al.Blood|February 28, 2020
Association of clinical severity with FANCB variant type in Fanconi anemiaMoonjung Jung, Ramanagouda Ramanagoudr-Bhojappa, Sylvie van Twest, et al.American Journal of Human Genetics|November 5, 2016
Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone LissencephalyJulie Jerber, Maha S Zaki, Jumana Y Al-Aama, et al.American Journal of Human Genetics|March 5, 2013
Whole-exome sequencing identifies mutated c12orf57 in recessive corpus callosum hypoplasiaNaiara Akizu, Nuri M Shembesh, Tawfeg Ben-Omran, et al.Journal of Medical Genetics|May 22, 2016
Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypesSusanne Roosing, Marta Romani, Mala Isrie, et al.American Journal of Human Genetics|December 24, 2013
Mutations in CSPP1 lead to classical Joubert syndromeNaiara Akizu, Jennifer L Silhavy, Rasim Ozgur Rosti, et al.Nature Genetics|May 26, 2015
Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndromeAlicia Guemez-Gamboa, Long N Nguyen, Hongbo Yang, et al.Nature Genetics|August 12, 2009
Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathiesStephanie L Bielas, Jennifer L Silhavy, Francesco Brancati, et al.Pageof 2