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George Hoganson

Showing results (11-20 of 18) with videos related to

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Pediatric Neurology|September 21, 2023
De Novo Variants in RAB11B Cause Various Degrees of Global Developmental Delay and Intellectual Disability in ChildrenNatalie Ahmad, Walid Fazeli, Sophia Schließke, et al.
American Journal of Medical Genetics. Part A|February 8, 2020
De novo heterozygous missense and loss-of-function variants in CDC42BPB are associated with a neurodevelopmental phenotypeIlana Chilton, Volkan Okur, Giuseppina Vitiello, et al.
Orphanet Journal of Rare Diseases|August 21, 2015
Mudd's disease (MAT I/III deficiency): a survey of data for MAT1A homozygotes and compound heterozygotesYin-Hsiu Chien, Jose E Abdenur, Federico Baronio, et al.
American Journal of Medical Genetics. Part A|July 26, 2020
Genotype-phenotype correlation at codon 1740 of SETD2Rachel Rabin, Alireza Radmanesh, Ian A Glass, et al.
Human Molecular Genetics|October 18, 2017
Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophyYanyan Peng, Deepali N Shinde, C Alexander Valencia, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 7, 2021
Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalitiesFuad Chowdhury, Lei Wang, Mohammed Al-Raqad, et al.
Nature Genetics|August 21, 2007
Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardationPatrick S Tarpey, F Lucy Raymond, Lam S Nguyen, et al.
American Journal of Human Genetics|June 20, 2020
De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental DelayLisenka E L M Vissers, Sreehari Kalvakuri, Elke de Boer, et al.
Pageof 2

Showing results (11-20 of 18) with videos related to

Sort By:
Pageof 2
You have reached the last page of results.This site can display upto 18 results.
Pediatric Neurology|September 21, 2023
De Novo Variants in RAB11B Cause Various Degrees of Global Developmental Delay and Intellectual Disability in ChildrenNatalie Ahmad, Walid Fazeli, Sophia Schließke, et al.
American Journal of Medical Genetics. Part A|February 8, 2020
De novo heterozygous missense and loss-of-function variants in CDC42BPB are associated with a neurodevelopmental phenotypeIlana Chilton, Volkan Okur, Giuseppina Vitiello, et al.
Orphanet Journal of Rare Diseases|August 21, 2015
Mudd's disease (MAT I/III deficiency): a survey of data for MAT1A homozygotes and compound heterozygotesYin-Hsiu Chien, Jose E Abdenur, Federico Baronio, et al.
American Journal of Medical Genetics. Part A|July 26, 2020
Genotype-phenotype correlation at codon 1740 of SETD2Rachel Rabin, Alireza Radmanesh, Ian A Glass, et al.
Human Molecular Genetics|October 18, 2017
Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophyYanyan Peng, Deepali N Shinde, C Alexander Valencia, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 7, 2021
Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalitiesFuad Chowdhury, Lei Wang, Mohammed Al-Raqad, et al.
Nature Genetics|August 21, 2007
Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardationPatrick S Tarpey, F Lucy Raymond, Lam S Nguyen, et al.
American Journal of Human Genetics|June 20, 2020
De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental DelayLisenka E L M Vissers, Sreehari Kalvakuri, Elke de Boer, et al.
Pageof 2