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American Journal of Medical Genetics. Part A
|
August 14, 2012
Atypical amyoplasia congenita in an infant with Leigh syndrome: a mitochondrial cause of severe contractures?
Yael Wilnai, Laurie H Seaver, Gregory M Enns
Ultrastructural Pathology
|
June 17, 2014
Abnormal hepatocellular mitochondria in methylmalonic acidemia
Yael Wilnai, Gregory M Enns, Anna-Kaisa Niemi, et al.
Acta Diabetologica
|
February 9, 2022
Looking for the skeleton in the closet-rare genetic diagnoses in patients with diabetes and skeletal manifestations
Avivit Brener, Leonid Zeitlin, Yael Wilnai, et al.
Journal of Molecular Neuroscience : MN
|
June 8, 2022
Unique Ataxia-Oculomotor Apraxia 2 (AOA2) in Israel with Novel Variants, Atypical Late Presentation, and Possible Identification of a Poison Exon
Penina Ponger, Alina Kurolap, Israela Lerer, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 15, 2014
Clinical whole-exome sequencing: are we there yet?
Paldeep Singh Atwal, Marie-Louise Brennan, Rachel Cox, et al.
American Journal of Medical Genetics. Part A
|
September 17, 2015
The phenotype of the musculocontractural type of Ehlers-Danlos syndrome due to CHST14 mutations
Andreas R Janecke, Ben Li, Manfred Boehm, et al.
The Journal of Biological Chemistry
|
November 22, 2019
The intrinsically disordered C terminus of troponin T binds to troponin C to modulate myocardial force generation
Jamie R Johnston, Maicon Landim-Vieira, Mayra A Marques, et al.
Journal of Human Genetics
|
July 16, 2024
Heterozygous mutations in the straitjacket region of the latency-associated peptide domain of TGFB2 cause Camurati-Engelmann disease type II
Zheng Wang, Mitsuhiro Kometani, Leonid Zeitlin, et al.
American Journal of Ophthalmology
|
November 16, 2023
Lisch Epithelial Corneal Dystrophy Is Caused by Heterozygous Loss-of-Function Variants in MCOLN1
Karynne Patterson, Jessica X Chong, Doug D Chung, et al.
Molecular Genetics and Metabolism
|
February 4, 2018
Prenatal treatment of ornithine transcarbamylase deficiency
Yael Wilnai, Yair J Blumenfeld, Kristina Cusmano, et al.
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of 2
Search research articles
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Showing results (1-10 of 20) with videos related to
Sort By:
Page
of 2
American Journal of Medical Genetics. Part A
|
August 14, 2012
Atypical amyoplasia congenita in an infant with Leigh syndrome: a mitochondrial cause of severe contractures?
Yael Wilnai, Laurie H Seaver, Gregory M Enns
Ultrastructural Pathology
|
June 17, 2014
Abnormal hepatocellular mitochondria in methylmalonic acidemia
Yael Wilnai, Gregory M Enns, Anna-Kaisa Niemi, et al.
Acta Diabetologica
|
February 9, 2022
Looking for the skeleton in the closet-rare genetic diagnoses in patients with diabetes and skeletal manifestations
Avivit Brener, Leonid Zeitlin, Yael Wilnai, et al.
Journal of Molecular Neuroscience : MN
|
June 8, 2022
Unique Ataxia-Oculomotor Apraxia 2 (AOA2) in Israel with Novel Variants, Atypical Late Presentation, and Possible Identification of a Poison Exon
Penina Ponger, Alina Kurolap, Israela Lerer, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 15, 2014
Clinical whole-exome sequencing: are we there yet?
Paldeep Singh Atwal, Marie-Louise Brennan, Rachel Cox, et al.
American Journal of Medical Genetics. Part A
|
September 17, 2015
The phenotype of the musculocontractural type of Ehlers-Danlos syndrome due to CHST14 mutations
Andreas R Janecke, Ben Li, Manfred Boehm, et al.
The Journal of Biological Chemistry
|
November 22, 2019
The intrinsically disordered C terminus of troponin T binds to troponin C to modulate myocardial force generation
Jamie R Johnston, Maicon Landim-Vieira, Mayra A Marques, et al.
Journal of Human Genetics
|
July 16, 2024
Heterozygous mutations in the straitjacket region of the latency-associated peptide domain of TGFB2 cause Camurati-Engelmann disease type II
Zheng Wang, Mitsuhiro Kometani, Leonid Zeitlin, et al.
American Journal of Ophthalmology
|
November 16, 2023
Lisch Epithelial Corneal Dystrophy Is Caused by Heterozygous Loss-of-Function Variants in MCOLN1
Karynne Patterson, Jessica X Chong, Doug D Chung, et al.
Molecular Genetics and Metabolism
|
February 4, 2018
Prenatal treatment of ornithine transcarbamylase deficiency
Yael Wilnai, Yair J Blumenfeld, Kristina Cusmano, et al.
Page
of 2