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American Journal of Human Genetics
|
March 21, 2020
De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation
Dongxue Mao, Chloe M Reuter, Maura R Z Ruzhnikov, et al.
European Journal of Human Genetics : EJHG
|
July 1, 2026
CMIP as a novel candidate gene for neurodevelopmental and neuropsychiatric disorders
Matthias De Wachter, Mathijs B van der Lei, Amber Decleve, et al.
Nature Genetics
|
October 6, 2015
MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates
Anne Guimier, George C Gabriel, Fanny Bajolle, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 15, 2021
Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency
James Fasham, Siying Lin, Promita Ghosh, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
January 31, 2023
Insurance denials and diagnostic rates in a pediatric genomic research cohort
Tricia N Zion, Courtney D Berrios, Ana S A Cohen, 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.
American Journal of Human Genetics
|
December 31, 2022
Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype
Susan M Hiatt, Slavica Trajkova, Matteo Rossi Sebastiano, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
March 20, 2022
Genomic answers for children: Dynamic analyses of >1000 pediatric rare disease genomes
Ana S A Cohen, Emily G Farrow, Ahmed T Abdelmoity, et al.
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Search research articles
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Showing results (51-60 of 58) with videos related to
Sort By:
Page
of 6
You have reached the last page of results.
This site can display upto 58 results.
American Journal of Human Genetics
|
March 21, 2020
De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation
Dongxue Mao, Chloe M Reuter, Maura R Z Ruzhnikov, et al.
European Journal of Human Genetics : EJHG
|
July 1, 2026
CMIP as a novel candidate gene for neurodevelopmental and neuropsychiatric disorders
Matthias De Wachter, Mathijs B van der Lei, Amber Decleve, et al.
Nature Genetics
|
October 6, 2015
MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates
Anne Guimier, George C Gabriel, Fanny Bajolle, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 15, 2021
Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency
James Fasham, Siying Lin, Promita Ghosh, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
January 31, 2023
Insurance denials and diagnostic rates in a pediatric genomic research cohort
Tricia N Zion, Courtney D Berrios, Ana S A Cohen, 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.
American Journal of Human Genetics
|
December 31, 2022
Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype
Susan M Hiatt, Slavica Trajkova, Matteo Rossi Sebastiano, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
March 20, 2022
Genomic answers for children: Dynamic analyses of >1000 pediatric rare disease genomes
Ana S A Cohen, Emily G Farrow, Ahmed T Abdelmoity, et al.
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of 6