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Jan M Friedman

Showing results (141-150 of 165) with videos related to

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American Journal of Human Genetics|July 4, 2017
Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic EncephalopathyAnna Lehman, Samrat Thouta, Grazia M S Mancini, et al.
Journal of Pediatric Orthopedics|March 14, 2013
Approaches to treating NF1 tibial pseudarthrosis: consensus from the Children's Tumor Foundation NF1 Bone Abnormalities ConsortiumDavid A Stevenson, David Little, Linlea Armstrong, et al.
European Journal of Human Genetics : EJHG|May 8, 2026
Genomic newborn screening: a scoping review of the field's evolution and associated ethical, legal, and social implicationsGemma L Brown, Loren Walker, Mutiat A Afolabi, et al.
Molecular Genetics and Metabolism|July 18, 2019
Aspartylglycosamine is a biomarker for NGLY1-CDDG, a congenital disorder of deglycosylationHanneke A Haijes, Monique G M de Sain-van der Velden, Hubertus C M T Prinsen, et al.
American Journal of Medical Genetics. Part A|September 19, 2009
Skeletal abnormalities in neurofibromatosis type 1: approaches to therapeutic optionsFlorent Elefteriou, Mateusz Kolanczyk, Aaron Schindeler, et al.
Journal of the American Academy of Child and Adolescent Psychiatry|October 8, 2025
Systematic Review and Meta-Analysis: Acetaminophen Use During Pregnancy and the Risk of Neurodevelopmental Disorders in ChildhoodAnick Bérard, Judith Cottin, Lisiane F Leal, et al.
American Journal of Human Genetics|June 7, 2014
FORGE Canada Consortium: outcomes of a 2-year national rare-disease gene-discovery projectChandree L Beaulieu, Jacek Majewski, Jeremy Schwartzentruber, et al.
The Journal of Allergy and Clinical Immunology|December 17, 2013
Combined immunodeficiency associated with homozygous MALT1 mutationsMargaret L McKinnon, Jacob Rozmus, Shan-Yu Fung, et al.
European Journal of Pediatrics|June 8, 2019
RAPIDOMICS: rapid genome-wide sequencing in a neonatal intensive care unit-successes and challengesAlison M Elliott, Christèle du Souich, Anna Lehman, et al.
Journal of Medical Genetics|May 9, 2015
The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical GeneticistsKym Boycott, Taila Hartley, Shelin Adam, et al.
Pageof 17

Showing results (141-150 of 165) with videos related to

Sort By:
Pageof 17
American Journal of Human Genetics|July 4, 2017
Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic EncephalopathyAnna Lehman, Samrat Thouta, Grazia M S Mancini, et al.
Journal of Pediatric Orthopedics|March 14, 2013
Approaches to treating NF1 tibial pseudarthrosis: consensus from the Children's Tumor Foundation NF1 Bone Abnormalities ConsortiumDavid A Stevenson, David Little, Linlea Armstrong, et al.
European Journal of Human Genetics : EJHG|May 8, 2026
Genomic newborn screening: a scoping review of the field's evolution and associated ethical, legal, and social implicationsGemma L Brown, Loren Walker, Mutiat A Afolabi, et al.
Molecular Genetics and Metabolism|July 18, 2019
Aspartylglycosamine is a biomarker for NGLY1-CDDG, a congenital disorder of deglycosylationHanneke A Haijes, Monique G M de Sain-van der Velden, Hubertus C M T Prinsen, et al.
American Journal of Medical Genetics. Part A|September 19, 2009
Skeletal abnormalities in neurofibromatosis type 1: approaches to therapeutic optionsFlorent Elefteriou, Mateusz Kolanczyk, Aaron Schindeler, et al.
Journal of the American Academy of Child and Adolescent Psychiatry|October 8, 2025
Systematic Review and Meta-Analysis: Acetaminophen Use During Pregnancy and the Risk of Neurodevelopmental Disorders in ChildhoodAnick Bérard, Judith Cottin, Lisiane F Leal, et al.
American Journal of Human Genetics|June 7, 2014
FORGE Canada Consortium: outcomes of a 2-year national rare-disease gene-discovery projectChandree L Beaulieu, Jacek Majewski, Jeremy Schwartzentruber, et al.
The Journal of Allergy and Clinical Immunology|December 17, 2013
Combined immunodeficiency associated with homozygous MALT1 mutationsMargaret L McKinnon, Jacob Rozmus, Shan-Yu Fung, et al.
European Journal of Pediatrics|June 8, 2019
RAPIDOMICS: rapid genome-wide sequencing in a neonatal intensive care unit-successes and challengesAlison M Elliott, Christèle du Souich, Anna Lehman, et al.
Journal of Medical Genetics|May 9, 2015
The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical GeneticistsKym Boycott, Taila Hartley, Shelin Adam, et al.
Pageof 17