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American Journal of Medical Genetics. Part A|May 9, 2018
KIF16B is a candidate gene for a novel autosomal-recessive intellectual disability syndromeSaud Alsahli, Stefan T Arold, Ahmed Alfares, et al.
American Journal of Medical Genetics. Part A|May 9, 2018
Novel PLS3 variants in X-linked osteoporosis: Exploring bone material propertiesMeena Balasubramanian, Nadja Fratzl-Zelman, Rory O'Sullivan, et al.
American Journal of Medical Genetics. Part A|May 9, 2018
Tissue-specific mosaicism in hereditary hemorrhagic telangiectasia: Implications for genetic testing in familiesJamie McDonald, Whitney L Wooderchak-Donahue, Katharine Henderson, et al.
American Journal of Medical Genetics. Part A|August 30, 2016
Maternal hypertension and risk for hypospadias in offspringA J Agopian, Thanh T Hoang, Laura E Mitchell, et al.
American Journal of Medical Genetics. Part A|September 3, 2016
Paternal uniparental disomy with segmental loss of heterozygosity of chromosome 11 are hallmark characteristics of syndromic and sporadic embryonal rhabdomyosarcomaKatherine M Robbins, Deborah L Stabley, Jennifer Holbrook, et al.
American Journal of Medical Genetics. Part A|September 28, 2016
A novel NDUFS4 frameshift mutation causes Leigh disease in the Hutterite populationRyan E Lamont, Chandree L Beaulieu, Francois P Bernier, et al.
American Journal of Medical Genetics. Part A|September 27, 2016
New SMARCA2 mutation in a patient with Nicolaides-Baraitser syndrome and myoclonic astatic epilepsyS Tang, E Hughes, K Lascelles, et al.
American Journal of Medical Genetics. Part A|September 27, 2016
Using a qualitative approach to conceptualize concerns of patients with neurofibromatosis type 1 associated plexiform neurofibromas (pNF) across the lifespanJin-Shei Lai, Sally E Jensen, Zabin S Patel, et al.
American Journal of Medical Genetics. Part A|August 28, 2016
Exome sequencing-based identification of mutations in non-syndromic genes among individuals with apparently syndromic featuresEriko Nishi, Koji Masuda, Michiko Arakawa, et al.
American Journal of Medical Genetics. Part A|April 29, 2018
A missense mutation in EBF2 was segregated with imperforate anus in a family across three generationsShinn Young Kim, Hyun-Sun Ko, Namshin Kim, et al.
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