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Jan M Friedman

Showing results (161-170 of 165) with videos related to

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The New England Journal of Medicine|June 9, 2016
Exome Sequencing and the Management of Neurometabolic DisordersMaja Tarailo-Graovac, Casper Shyr, Colin J Ross, et al.
Brain : a Journal of Neurology|January 23, 2019
PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insightsDevon L Johnstone, Hilal H Al-Shekaili, Maja Tarailo-Graovac, et al.
Brain : a Journal of Neurology|December 14, 2019
MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsisChristopher C Y Mak, Dan Doherty, Angela E Lin, et al.
American Journal of Human Genetics|September 9, 2025
A clinical and genotype-phenotype analysis of MACF1 variantsJordy Dekker, Rachel Schot, Kimberly A Aldinger, et al.
Science (New York, N.Y.)|April 12, 2003
Human chromosome 7: DNA sequence and biologyStephen W Scherer, Joseph Cheung, Jeffrey R MacDonald, et al.
Pageof 17

Showing results (161-170 of 165) with videos related to

Sort By:
Pageof 17
You have reached the last page of results.This site can display upto 165 results.
The New England Journal of Medicine|June 9, 2016
Exome Sequencing and the Management of Neurometabolic DisordersMaja Tarailo-Graovac, Casper Shyr, Colin J Ross, et al.
Brain : a Journal of Neurology|January 23, 2019
PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insightsDevon L Johnstone, Hilal H Al-Shekaili, Maja Tarailo-Graovac, et al.
Brain : a Journal of Neurology|December 14, 2019
MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsisChristopher C Y Mak, Dan Doherty, Angela E Lin, et al.
American Journal of Human Genetics|September 9, 2025
A clinical and genotype-phenotype analysis of MACF1 variantsJordy Dekker, Rachel Schot, Kimberly A Aldinger, et al.
Science (New York, N.Y.)|April 12, 2003
Human chromosome 7: DNA sequence and biologyStephen W Scherer, Joseph Cheung, Jeffrey R MacDonald, et al.
Pageof 17