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Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders.Academic Article Why?
LHX2 haploinsufficiency causes a variable neurodevelopmental disorder.Academic Article Why?
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.Academic Article Why?
Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders.Academic Article Why?
Neurodevelopmental DisordersConcept Why?
Compound Heterozygous Variants in ROBO1 Cause a Neurodevelopmental Disorder With Absence of Transverse Pontine Fibers and Thinning of the Anterior Commissure and Corpus Callosum.Academic Article Why?
Heterozygous variants in ZBTB7A cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobin.Academic Article Why?
Structural Connectomics: State of the Art and Applications in Pediatric Neurodevelopmental Disorders, Neuro-Oncology, and Arterial Ischemic Stroke.Academic Article Why?
A 15q13.3 homozygous microdeletion associated with a severe neurodevelopmental disorder suggests putative functions of the TRPM1, CHRNA7, and other homozygously deleted genes.Academic Article Why?
Childhood Outcomes Following Parechovirus Infections in a US Young Infant Cohort.Academic Article Why?
De novo heterozygous missense and loss-of-function variants in CDC42BPB are associated with a neurodevelopmental phenotype.Academic Article Why?
Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype.Academic Article Why?
High-resolution analyses of human sperm dynamic methylome reveal thousands of novel age-related epigenetic alterations.Academic Article Why?
Initial Laparotomy Versus Peritoneal Drainage in Extremely Low Birthweight Infants With Surgical Necrotizing Enterocolitis or Isolated Intestinal Perforation: A Multicenter Randomized Clinical Trial.Academic Article Why?
Jansen-de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families.Academic Article Why?
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