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American Journal of Medical Genetics. Part A
|
August 5, 2017
Identification of STAC3 variants in non-Native American families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndrome
Aida Telegrafi, Bryn D Webb, Sarah M Robbins, et al.
Human Mutation
|
January 10, 2018
Clinical, biochemical, and genetic features associated with VARS2-related mitochondrial disease
Francesco Bruni, Ivano Di Meo, Emanuele Bellacchio, et al.
Journal of Medical Genetics
|
May 12, 2012
OTX2 mutations contribute to the otocephaly-dysgnathia complex
Nicolas Chassaing, Susanna Sorrentino, Erica E Davis, et al.
American Journal of Human Genetics
|
August 5, 2017
Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome
Nicole J Lake, Bryn D Webb, David A Stroud, et al.
Nature Communications
|
July 7, 2017
A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome
Silvio Alessandro Di Gioia, Samantha Connors, Norisada Matsunami, et al.
Human Genetics
|
October 15, 2021
TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy
Mary C Whitman, Brenda J Barry, Caroline D Robson, et al.
Brain : a Journal of Neurology
|
August 8, 2020
Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder
Pauline E Schneeberger, Fanny Kortüm, Georg Christoph Korenke, et al.
Brain Communications
|
October 3, 2025
Clinical and molecular characterization of SLC31A1-related developmental and epileptic encephalopathy: insights from 13 new cases
Natalia Juliá-Palacios, Gerard Muñoz-Pujol, Reza Maroofian, et al.
Genetics in Medicine Open
|
July 15, 2025
Systematic phenotype and genotype characterization of Moebius syndrome
Bryn D Webb, Julie A Jurgens, Narisu Narisu, et al.
American Journal of Human Genetics
|
January 29, 2025
Sequence variants in HECTD1 result in a variable neurodevelopmental disorder
Gazelle Zerafati-Jahromi, Elias Oxman, Hieu D Hoang, et al.
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of 6
Search research articles
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Showing results (41-50 of 51) with videos related to
Sort By:
Page
of 6
American Journal of Medical Genetics. Part A
|
August 5, 2017
Identification of STAC3 variants in non-Native American families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndrome
Aida Telegrafi, Bryn D Webb, Sarah M Robbins, et al.
Human Mutation
|
January 10, 2018
Clinical, biochemical, and genetic features associated with VARS2-related mitochondrial disease
Francesco Bruni, Ivano Di Meo, Emanuele Bellacchio, et al.
Journal of Medical Genetics
|
May 12, 2012
OTX2 mutations contribute to the otocephaly-dysgnathia complex
Nicolas Chassaing, Susanna Sorrentino, Erica E Davis, et al.
American Journal of Human Genetics
|
August 5, 2017
Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome
Nicole J Lake, Bryn D Webb, David A Stroud, et al.
Nature Communications
|
July 7, 2017
A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome
Silvio Alessandro Di Gioia, Samantha Connors, Norisada Matsunami, et al.
Human Genetics
|
October 15, 2021
TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy
Mary C Whitman, Brenda J Barry, Caroline D Robson, et al.
Brain : a Journal of Neurology
|
August 8, 2020
Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder
Pauline E Schneeberger, Fanny Kortüm, Georg Christoph Korenke, et al.
Brain Communications
|
October 3, 2025
Clinical and molecular characterization of SLC31A1-related developmental and epileptic encephalopathy: insights from 13 new cases
Natalia Juliá-Palacios, Gerard Muñoz-Pujol, Reza Maroofian, et al.
Genetics in Medicine Open
|
July 15, 2025
Systematic phenotype and genotype characterization of Moebius syndrome
Bryn D Webb, Julie A Jurgens, Narisu Narisu, et al.
American Journal of Human Genetics
|
January 29, 2025
Sequence variants in HECTD1 result in a variable neurodevelopmental disorder
Gazelle Zerafati-Jahromi, Elias Oxman, Hieu D Hoang, et al.
Page
of 6