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American Journal of Medical Genetics. Part A
|
June 20, 2023
Further validation of craniosynostosis as a part of phenotypic spectrum of BCL11B-related BAFopathy
Shruti Pande, Selinda Mascarenhas, Aishwarya Venkatraman, et al.
American Journal of Medical Genetics. Part A
|
November 1, 2019
Bain type of X-linked syndromic mental retardation in a male with a pathogenic variant in HNRNPH2
Puneeth H Somashekar, Dhanya L Narayanan, Sujatha Jagadeesh, et al.
Clinical Genetics
|
January 19, 2021
Bi-allelic missense variant, p.Ser35Leu in EXOSC1 is associated with pontocerebellar hypoplasia
Puneeth H Somashekar, Parneet Kaur, Joshi Stephen, et al.
Nature Communications
|
April 28, 2022
Molecular and functional heterogeneity in dorsal and ventral oligodendrocyte progenitor cells of the mouse forebrain in response to DNA damage
Enrica Boda, Martina Lorenzati, Roberta Parolisi, et al.
American Journal of Medical Genetics. Part A
|
June 9, 2016
Homozygous deletion of exons 2 and 3 of NPC2 associated with Niemann-Pick disease type C
Malavika Hebbar, Harsha Prasada L, Aneek Das Bhowmik, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
January 10, 2018
Dysregulation of cotranscriptional alternative splicing underlies CHARGE syndrome
Catherine Bélanger, Félix-Antoine Bérubé-Simard, Elizabeth Leduc, et al.
European Journal of Human Genetics : EJHG
|
July 19, 2021
Multilocus disease-causing genomic variations for Mendelian disorders: role of systematic phenotyping and implications on genetic counselling
Dhanya Lakshmi Narayanan, Divya Udyawar, Parneet Kaur, et al.
Biorxiv : the Preprint Server for Biology
|
February 12, 2026
Donor-matched iPSC model reveals context-dependent T2D genetic signals in fibro-adipogenic progenitors
Christa Ventresca, Arushi Varshney, Peter Orchard, et al.
Pediatric Research
|
October 17, 2019
Genotype-phenotype analysis of 523 patients by genetics evaluation and clinical exome sequencing
Mark N Ziats, Ayesha Ahmad, John A Bernat, et al.
American Journal of Medical Genetics. Part A
|
October 29, 2024
Neuroimaging to Genotype: Delineating the Spectrum of Disorders With Deficient Myelination in the Indian Population
Namanpreet Kaur, Michelle C do Rosario, Purvi Majethia, et al.
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Search research articles
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Showing results (11-20 of 25) with videos related to
Sort By:
Page
of 3
American Journal of Medical Genetics. Part A
|
June 20, 2023
Further validation of craniosynostosis as a part of phenotypic spectrum of BCL11B-related BAFopathy
Shruti Pande, Selinda Mascarenhas, Aishwarya Venkatraman, et al.
American Journal of Medical Genetics. Part A
|
November 1, 2019
Bain type of X-linked syndromic mental retardation in a male with a pathogenic variant in HNRNPH2
Puneeth H Somashekar, Dhanya L Narayanan, Sujatha Jagadeesh, et al.
Clinical Genetics
|
January 19, 2021
Bi-allelic missense variant, p.Ser35Leu in EXOSC1 is associated with pontocerebellar hypoplasia
Puneeth H Somashekar, Parneet Kaur, Joshi Stephen, et al.
Nature Communications
|
April 28, 2022
Molecular and functional heterogeneity in dorsal and ventral oligodendrocyte progenitor cells of the mouse forebrain in response to DNA damage
Enrica Boda, Martina Lorenzati, Roberta Parolisi, et al.
American Journal of Medical Genetics. Part A
|
June 9, 2016
Homozygous deletion of exons 2 and 3 of NPC2 associated with Niemann-Pick disease type C
Malavika Hebbar, Harsha Prasada L, Aneek Das Bhowmik, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
January 10, 2018
Dysregulation of cotranscriptional alternative splicing underlies CHARGE syndrome
Catherine Bélanger, Félix-Antoine Bérubé-Simard, Elizabeth Leduc, et al.
European Journal of Human Genetics : EJHG
|
July 19, 2021
Multilocus disease-causing genomic variations for Mendelian disorders: role of systematic phenotyping and implications on genetic counselling
Dhanya Lakshmi Narayanan, Divya Udyawar, Parneet Kaur, et al.
Biorxiv : the Preprint Server for Biology
|
February 12, 2026
Donor-matched iPSC model reveals context-dependent T2D genetic signals in fibro-adipogenic progenitors
Christa Ventresca, Arushi Varshney, Peter Orchard, et al.
Pediatric Research
|
October 17, 2019
Genotype-phenotype analysis of 523 patients by genetics evaluation and clinical exome sequencing
Mark N Ziats, Ayesha Ahmad, John A Bernat, et al.
American Journal of Medical Genetics. Part A
|
October 29, 2024
Neuroimaging to Genotype: Delineating the Spectrum of Disorders With Deficient Myelination in the Indian Population
Namanpreet Kaur, Michelle C do Rosario, Purvi Majethia, et al.
Page
of 3