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American Journal of Medical Genetics. Part A
|
December 23, 2022
Detection of mosaic variants using genome sequencing in a large pediatric cohort
Jacqueline A Odgis, Katie M Gallagher, Atteeq U Rehman, et al.
American Journal of Medical Genetics. Part A
|
July 31, 2021
ZTTK syndrome: Clinical and molecular findings of 15 cases and a review of the literature
Sulagna Tina Kushary, Anya Revah-Politi, Subit Barua, et al.
European Journal of Human Genetics : EJHG
|
July 27, 2023
Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays
Mythily Ganapathi, Leticia S Matsuoka, Michael March, et al.
Journal of Inherited Metabolic Disease
|
May 27, 2022
A homozygous splice variant in ATP5PO, disrupts mitochondrial complex V function and causes Leigh syndrome in two unrelated families
Mythily Ganapathi, Gaelle Friocourt, Naig Gueguen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 26, 2022
Clinical validity assessment of genes frequently tested on intellectual disability/autism sequencing panels
Erin Rooney Riggs, Taylor I Bingaman, Carrie-Ann Barry, et al.
American Journal of Human Genetics
|
July 30, 2020
Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum
Marialetizia Motta, Luca Pannone, Francesca Pantaleoni, et al.
Orphanet Journal of Rare Diseases
|
October 17, 2015
Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations
Sandra Mercier, Sébastien Küry, Emmanuelle Salort-Campana, et al.
Research Square
|
January 8, 2026
Characterization of CTNND2-related neurodevelopmental disease, phenotype-genotype spectrum and WNT dynamics in early neurogenesis
Mansoureh Shahsavani, Josephine Wincent, Ricarda Reiter, et al.
The New England Journal of Medicine
|
June 5, 2024
Genome Sequencing for Diagnosing Rare Diseases
Monica H Wojcik, Gabrielle Lemire, Eva Berger, et al.
The Journal of Clinical Investigation
|
November 14, 2023
Spliceosome malfunction causes neurodevelopmental disorders with overlapping features
Dong Li, Qin Wang, Allan Bayat, et al.
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Search research articles
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Showing results (41-50 of 50) with videos related to
Sort By:
Page
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This site can display upto 50 results.
American Journal of Medical Genetics. Part A
|
December 23, 2022
Detection of mosaic variants using genome sequencing in a large pediatric cohort
Jacqueline A Odgis, Katie M Gallagher, Atteeq U Rehman, et al.
American Journal of Medical Genetics. Part A
|
July 31, 2021
ZTTK syndrome: Clinical and molecular findings of 15 cases and a review of the literature
Sulagna Tina Kushary, Anya Revah-Politi, Subit Barua, et al.
European Journal of Human Genetics : EJHG
|
July 27, 2023
Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays
Mythily Ganapathi, Leticia S Matsuoka, Michael March, et al.
Journal of Inherited Metabolic Disease
|
May 27, 2022
A homozygous splice variant in ATP5PO, disrupts mitochondrial complex V function and causes Leigh syndrome in two unrelated families
Mythily Ganapathi, Gaelle Friocourt, Naig Gueguen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 26, 2022
Clinical validity assessment of genes frequently tested on intellectual disability/autism sequencing panels
Erin Rooney Riggs, Taylor I Bingaman, Carrie-Ann Barry, et al.
American Journal of Human Genetics
|
July 30, 2020
Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum
Marialetizia Motta, Luca Pannone, Francesca Pantaleoni, et al.
Orphanet Journal of Rare Diseases
|
October 17, 2015
Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations
Sandra Mercier, Sébastien Küry, Emmanuelle Salort-Campana, et al.
Research Square
|
January 8, 2026
Characterization of CTNND2-related neurodevelopmental disease, phenotype-genotype spectrum and WNT dynamics in early neurogenesis
Mansoureh Shahsavani, Josephine Wincent, Ricarda Reiter, et al.
The New England Journal of Medicine
|
June 5, 2024
Genome Sequencing for Diagnosing Rare Diseases
Monica H Wojcik, Gabrielle Lemire, Eva Berger, et al.
The Journal of Clinical Investigation
|
November 14, 2023
Spliceosome malfunction causes neurodevelopmental disorders with overlapping features
Dong Li, Qin Wang, Allan Bayat, et al.
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of 5