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Showing results (291-300 of 347) with videos related to

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Human Mutation|September 17, 2020
Goldberg-Shprintzen syndrome is determined by the absence, or reduced expression levels, of KIFBPKatherine C MacKenzie, Bianca M de Graaf, Andreas Syrimis, et al.
Brain : a Journal of Neurology|February 2, 2023
SMPD4 regulates mitotic nuclear envelope dynamics and its loss causes microcephaly and diabetesDaphne J Smits, Rachel Schot, Nathalie Krusy, et al.
American Journal of Human Genetics|June 30, 2009
Mutation in the AP4M1 gene provides a model for neuroaxonal injury in cerebral palsyAnnemieke J M H Verkerk, Rachel Schot, Belinda Dumee, et al.
American Journal of Human Genetics|March 3, 2019
Cysteinyl-tRNA Synthetase Mutations Cause a Multi-System, Recessive Disease That Includes Microcephaly, Developmental Delay, and Brittle Hair and NailsMolly E Kuo, Arjan F Theil, Anneke Kievit, et al.
Human Molecular Genetics|February 7, 2020
Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15Hanyin Cheng, Leah Gottlieb, Elaine Marchi, et al.
Human Molecular Genetics|May 26, 2019
Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15Hanyin Cheng, Leah Gottlieb, Elaine Marchi, et al.
Acta Obstetricia Et Gynecologica Scandinavica|November 29, 2020
The potential diagnostic yield of whole exome sequencing in pregnancies complicated by fetal ultrasound anomaliesKarin E M Diderich, Kathleen Romijn, Marieke Joosten, et al.
Nature Reviews. Neurology|September 8, 2020
International consensus recommendations on the diagnostic work-up for malformations of cortical developmentRenske Oegema, Tahsin Stefan Barakat, Martina Wilke, et al.
Plos Genetics|August 2, 2017
Correction: Human mutations in integrator complex subunits link transcriptome integrity to brain developmentRenske Oegema, David Baillat, Rachel Schot, et al.
Cell|August 7, 2021
Human TBK1 deficiency leads to autoinflammation driven by TNF-induced cell deathJustin Taft, Michael Markson, Diana Legarda, et al.
Pageof 35

Showing results (291-300 of 347) with videos related to

Sort By:
Pageof 35
Human Mutation|September 17, 2020
Goldberg-Shprintzen syndrome is determined by the absence, or reduced expression levels, of KIFBPKatherine C MacKenzie, Bianca M de Graaf, Andreas Syrimis, et al.
Brain : a Journal of Neurology|February 2, 2023
SMPD4 regulates mitotic nuclear envelope dynamics and its loss causes microcephaly and diabetesDaphne J Smits, Rachel Schot, Nathalie Krusy, et al.
American Journal of Human Genetics|June 30, 2009
Mutation in the AP4M1 gene provides a model for neuroaxonal injury in cerebral palsyAnnemieke J M H Verkerk, Rachel Schot, Belinda Dumee, et al.
American Journal of Human Genetics|March 3, 2019
Cysteinyl-tRNA Synthetase Mutations Cause a Multi-System, Recessive Disease That Includes Microcephaly, Developmental Delay, and Brittle Hair and NailsMolly E Kuo, Arjan F Theil, Anneke Kievit, et al.
Human Molecular Genetics|February 7, 2020
Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15Hanyin Cheng, Leah Gottlieb, Elaine Marchi, et al.
Human Molecular Genetics|May 26, 2019
Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15Hanyin Cheng, Leah Gottlieb, Elaine Marchi, et al.
Acta Obstetricia Et Gynecologica Scandinavica|November 29, 2020
The potential diagnostic yield of whole exome sequencing in pregnancies complicated by fetal ultrasound anomaliesKarin E M Diderich, Kathleen Romijn, Marieke Joosten, et al.
Nature Reviews. Neurology|September 8, 2020
International consensus recommendations on the diagnostic work-up for malformations of cortical developmentRenske Oegema, Tahsin Stefan Barakat, Martina Wilke, et al.
Plos Genetics|August 2, 2017
Correction: Human mutations in integrator complex subunits link transcriptome integrity to brain developmentRenske Oegema, David Baillat, Rachel Schot, et al.
Cell|August 7, 2021
Human TBK1 deficiency leads to autoinflammation driven by TNF-induced cell deathJustin Taft, Michael Markson, Diana Legarda, et al.
Pageof 35