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Plos One
|
December 5, 2013
A point mutation in the gene for asparagine-linked glycosylation 10B (Alg10b) causes nonsyndromic hearing impairment in mice (Mus musculus)
Frank J Probst, Rebecca R Corrigan, Daniela Del Gaudio, et al.
American Journal of Medical Genetics. Part A
|
January 25, 2014
Keutel syndrome: report of two novel MGP mutations and discussion of clinical overlap with arylsulfatase E deficiency and relapsing polychondritis
K Nicole Weaver, Moussa El Hallek, Robert J Hopkin, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM
|
February 20, 2016
Improved molecular diagnosis of patients with neonatal diabetes using a combined next-generation sequencing and MS-MLPA approach
Gorka Alkorta-Aranburu, Madina Sukhanova, David Carmody, et al.
Pediatric Diabetes
|
April 30, 2025
Clinical Characteristics and Remission Monitoring of 6q24-Related Transient Neonatal Diabetes
Michael E McCullough, Lisa R Letourneau-Freiberg, Tiana L Bowden, et al.
Human Mutation
|
August 30, 2008
Molecular diagnosis of Duchenne/Becker muscular dystrophy: enhanced detection of dystrophin gene rearrangements by oligonucleotide array-comparative genomic hybridization
Daniela del Gaudio, Yaping Yang, Barbara A Boggs, et al.
Molecular Genetics & Genomic Medicine
|
April 2, 2014
Copy number analysis of NIPBL in a cohort of 510 patients reveals rare copy number variants and a mosaic deletion
Yu-Wei Cheng, Christopher A Tan, Agata Minor, et al.
Journal of Autism and Developmental Disorders
|
November 21, 2007
Brief report: autistic symptoms, developmental regression, mental retardation, epilepsy, and dyskinesias in CNS folate deficiency
Paolo Moretti, Sarika U Peters, Daniela Del Gaudio, et al.
Human Genetics
|
May 19, 2009
Regional genomic instability predisposes to complex dystrophin gene rearrangements
Junko Oshima, Daniel B Magner, Jennifer A Lee, et al.
BMC Medical Genetics
|
August 14, 2012
A partial MECP2 duplication in a mildly affected adult male: a putative role for the 3' untranslated region in the MECP2 duplication phenotype
Neil A Hanchard, Claudia M B Carvalho, Patricia Bader, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 15, 2026
Spinal Muscular Atrophy Among US Hutterites: Phenotype Variability in the Setting of Conserved Ancestral Haplotype and 4 SMN2 Copies
Matthew E R Butchbach, Jennifer J Kale, Sarah D Simeone, et al.
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Search research articles
Search
Showing results (21-30 of 55) with videos related to
Sort By:
Page
of 6
Plos One
|
December 5, 2013
A point mutation in the gene for asparagine-linked glycosylation 10B (Alg10b) causes nonsyndromic hearing impairment in mice (Mus musculus)
Frank J Probst, Rebecca R Corrigan, Daniela Del Gaudio, et al.
American Journal of Medical Genetics. Part A
|
January 25, 2014
Keutel syndrome: report of two novel MGP mutations and discussion of clinical overlap with arylsulfatase E deficiency and relapsing polychondritis
K Nicole Weaver, Moussa El Hallek, Robert J Hopkin, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM
|
February 20, 2016
Improved molecular diagnosis of patients with neonatal diabetes using a combined next-generation sequencing and MS-MLPA approach
Gorka Alkorta-Aranburu, Madina Sukhanova, David Carmody, et al.
Pediatric Diabetes
|
April 30, 2025
Clinical Characteristics and Remission Monitoring of 6q24-Related Transient Neonatal Diabetes
Michael E McCullough, Lisa R Letourneau-Freiberg, Tiana L Bowden, et al.
Human Mutation
|
August 30, 2008
Molecular diagnosis of Duchenne/Becker muscular dystrophy: enhanced detection of dystrophin gene rearrangements by oligonucleotide array-comparative genomic hybridization
Daniela del Gaudio, Yaping Yang, Barbara A Boggs, et al.
Molecular Genetics & Genomic Medicine
|
April 2, 2014
Copy number analysis of NIPBL in a cohort of 510 patients reveals rare copy number variants and a mosaic deletion
Yu-Wei Cheng, Christopher A Tan, Agata Minor, et al.
Journal of Autism and Developmental Disorders
|
November 21, 2007
Brief report: autistic symptoms, developmental regression, mental retardation, epilepsy, and dyskinesias in CNS folate deficiency
Paolo Moretti, Sarika U Peters, Daniela Del Gaudio, et al.
Human Genetics
|
May 19, 2009
Regional genomic instability predisposes to complex dystrophin gene rearrangements
Junko Oshima, Daniel B Magner, Jennifer A Lee, et al.
BMC Medical Genetics
|
August 14, 2012
A partial MECP2 duplication in a mildly affected adult male: a putative role for the 3' untranslated region in the MECP2 duplication phenotype
Neil A Hanchard, Claudia M B Carvalho, Patricia Bader, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 15, 2026
Spinal Muscular Atrophy Among US Hutterites: Phenotype Variability in the Setting of Conserved Ancestral Haplotype and 4 SMN2 Copies
Matthew E R Butchbach, Jennifer J Kale, Sarah D Simeone, et al.
Page
of 6