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Pediatric Neurology
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September 27, 2023
Limitations of Multigene Next-Generation Sequencing Panel for "Cerebral Palsy" Phenotype and Other Complex Movement Disorders
Marina Eskandar, Laura Tochen, Mi Ran Shin, et al.
Molecular Genetics and Metabolism
|
April 1, 2018
Novel insights into the functional metabolic impact of an apparent de novo m.8993T>G variant in the MT-ATP6 gene associated with maternally inherited form of Leigh Syndrome
Martine Uittenbogaard, Christine A Brantner, ZiShui Fang, et al.
American Journal of Medical Genetics. Part A
|
August 7, 2013
Brain magnetic resonance imaging findings in Smith-Lemli-Opitz syndrome
Ryan W Y Lee, Sandra K Conley, Andrea Gropman, et al.
American Journal of Medical Genetics. Part A
|
July 4, 2020
Evidence of intrauterine growth restriction and growth hormone deficiency in 49,XXXXY syndrome
Debra R Counts, Christine Yu, Patricia C Lasutschinkow, et al.
American Journal of Medical Genetics
|
October 26, 2002
A cystic fibrosis patient with two novel mutations in mitochondrial DNA: mild disease led to delayed diagnosis of both disorders
Lee-Jun C Wong, Min-Hui Liang, Haeyoung Kwon, et al.
Pediatric Neurology
|
May 24, 2024
Expedited Exome Reanalysis Following Deep Phenotyping and Muscle Biopsy in Suspected Mitochondrial Disorder
Elizabeth Pickup, Steven A Moore, Pim Suwannarat, et al.
Molecular and Cellular Biology
|
October 1, 2003
Nck beta interacts with tyrosine-phosphorylated disabled 1 and redistributes in Reelin-stimulated neurons
Albéna Pramatarova, Pawel G Ochalski, Kelian Chen, et al.
Pediatric Neurology
|
November 13, 2024
Biallelic Variants in LIPT2 as a Cause of Infantile-Onset Dystonia: Expanding the Clinical and Molecular Spectrum
Kuntal Sen, Alonso Zea Vera, Anna Puronurmi, et al.
Molecular Genetics and Metabolism
|
February 3, 2019
The nuclear background influences the penetrance of the near-homoplasmic m.1630 A > G MELAS variant in a symptomatic proband and asymptomatic mother
Martine Uittenbogaard, Hao Wang, Victor Wei Zhang, et al.
American Journal of Medical Genetics. Part A
|
January 22, 2004
Variable clinical manifestation of homoplasmic G14459A mitochondrial DNA mutation
Andrea Gropman, Tian-Jian Chen, Cherng-Lih Perng, et al.
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of 9
Search research articles
Search
Showing results (31-40 of 86) with videos related to
Sort By:
Page
of 9
Pediatric Neurology
|
September 27, 2023
Limitations of Multigene Next-Generation Sequencing Panel for "Cerebral Palsy" Phenotype and Other Complex Movement Disorders
Marina Eskandar, Laura Tochen, Mi Ran Shin, et al.
Molecular Genetics and Metabolism
|
April 1, 2018
Novel insights into the functional metabolic impact of an apparent de novo m.8993T>G variant in the MT-ATP6 gene associated with maternally inherited form of Leigh Syndrome
Martine Uittenbogaard, Christine A Brantner, ZiShui Fang, et al.
American Journal of Medical Genetics. Part A
|
August 7, 2013
Brain magnetic resonance imaging findings in Smith-Lemli-Opitz syndrome
Ryan W Y Lee, Sandra K Conley, Andrea Gropman, et al.
American Journal of Medical Genetics. Part A
|
July 4, 2020
Evidence of intrauterine growth restriction and growth hormone deficiency in 49,XXXXY syndrome
Debra R Counts, Christine Yu, Patricia C Lasutschinkow, et al.
American Journal of Medical Genetics
|
October 26, 2002
A cystic fibrosis patient with two novel mutations in mitochondrial DNA: mild disease led to delayed diagnosis of both disorders
Lee-Jun C Wong, Min-Hui Liang, Haeyoung Kwon, et al.
Pediatric Neurology
|
May 24, 2024
Expedited Exome Reanalysis Following Deep Phenotyping and Muscle Biopsy in Suspected Mitochondrial Disorder
Elizabeth Pickup, Steven A Moore, Pim Suwannarat, et al.
Molecular and Cellular Biology
|
October 1, 2003
Nck beta interacts with tyrosine-phosphorylated disabled 1 and redistributes in Reelin-stimulated neurons
Albéna Pramatarova, Pawel G Ochalski, Kelian Chen, et al.
Pediatric Neurology
|
November 13, 2024
Biallelic Variants in LIPT2 as a Cause of Infantile-Onset Dystonia: Expanding the Clinical and Molecular Spectrum
Kuntal Sen, Alonso Zea Vera, Anna Puronurmi, et al.
Molecular Genetics and Metabolism
|
February 3, 2019
The nuclear background influences the penetrance of the near-homoplasmic m.1630 A > G MELAS variant in a symptomatic proband and asymptomatic mother
Martine Uittenbogaard, Hao Wang, Victor Wei Zhang, et al.
American Journal of Medical Genetics. Part A
|
January 22, 2004
Variable clinical manifestation of homoplasmic G14459A mitochondrial DNA mutation
Andrea Gropman, Tian-Jian Chen, Cherng-Lih Perng, et al.
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of 9