Results 231 to 240 of about 23,313,531 (341)

Analysis of Variance for Gene Expression Microarray Data

open access: yesJ. Comput. Biol., 2000
M. Kerr, Mitchell Martin, G. Churchill
semanticscholar   +1 more source

Respiratory Involvement in HIST1H1E‐Related Rahman Syndrome: A Case of Severe Mixed Apnea

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Rahman syndrome (HIST1H1E‐related neurodevelopmental syndrome, OMIM #617537) is a rare autosomal‐dominant condition caused by truncating variants in the C‐terminal domain of the HIST1H1E gene. It is characterized by macrocephaly, hypotonia, craniofacial anomalies, and multisystem anomalies.
Nada Barakat   +4 more
wiley   +1 more source

Combined analysis of oligonucleotide microarray data from transgenic and knockout mice identifies direct SREBP target genes

open access: yesProceedings of the National Academy of Sciences of the United States of America, 2003
J. Horton   +6 more
semanticscholar   +1 more source

Chromosomal Microarray Analysis in Spina Bifida: Genetic Heterogeneity and Its Clinical Implications.

open access: yesJ Indian Assoc Pediatr Surg
Pandey H   +9 more
europepmc   +1 more source

Long‐Read Genome Sequencing Establishes Biallelic Pathogenic Variants in DNM1 With Distinct Functional Effects as the Cause of Early Infantile Developmental and Epileptic Encephalopathy

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous de novo and inherited biallelic pathogenic variants in DNM1 have been reported in association with autosomal dominant (AD) and autosomal recessive (AR) developmental and epileptic encephalopathy, respectively, due to aberrant dynamin function or expression, with each inheritance pattern associated with a different mechanism of ...
Andy Drackley   +7 more
wiley   +1 more source

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