Search Results (34)
Click the Why column to see why an item matched the search.
| Match | Type | Why |
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| Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders. | Academic Article |
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| LHX2 haploinsufficiency causes a variable neurodevelopmental disorder. | Academic Article |
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| A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3. | Academic Article |
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| Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders. | Academic Article |
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| Neurodevelopmental Disorders | Concept |
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| 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 |
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| Heterozygous variants in ZBTB7A cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobin. | Academic Article |
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| Structural Connectomics: State of the Art and Applications in Pediatric Neurodevelopmental Disorders, Neuro-Oncology, and Arterial Ischemic Stroke. | Academic Article |
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| 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 |
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| Childhood Outcomes Following Parechovirus Infections in a US Young Infant Cohort. | Academic Article |
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| De novo heterozygous missense and loss-of-function variants in CDC42BPB are associated with a neurodevelopmental phenotype. | Academic Article |
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| Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype. | Academic Article |
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| High-resolution analyses of human sperm dynamic methylome reveal thousands of novel age-related epigenetic alterations. | Academic Article |
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| 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 |
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| Jansen-de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families. | Academic Article |
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