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Academic Journal

Phenotypic and mutational spectrum of ROR2‐related Robinow syndrome.

  • Source: Human Mutation; Jul2022, Vol. 43 Issue 7, p900-918, 19p

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Academic Journal

Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome.

  • Source: American Journal of Medical Genetics. Part A; Dec2021, Vol. 185 Issue 12, p3593-3600, 8p

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Academic Journal

Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomics

  • Source: Genome Medicine. November 1, 2016, Vol. 8 Issue 1

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Academic Journal

Further delineation of van den Ende‐Gupta syndrome: Genetic heterogeneity and overlap with congenital heart defects and skeletal malformations syndrome.

  • Source: American Journal of Medical Genetics. Part A; Jul2021, Vol. 185 Issue 7, p2136-2149, 14p

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Academic Journal

POGZ truncating alleles cause syndromic intellectual disability

  • Source: Genome Medicine. January 6, 2016, Vol. 8 Issue 3

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Academic Journal

Exome sequencing of family trios from the National Birth Defects Prevention Study: Tapping into a rich resource of genetic and environmental data.

  • Source: Birth Defects Research; Dec2019, Vol. 111 Issue 20, p1618-1632, 15p

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Academic Journal

Exome Sequencing of a Primary Ovarian Insufficiency Cohort Reveals Common Molecular Etiologies for a Spectrum of Disease.

  • Source: Journal of Clinical Endocrinology & Metabolism; Aug 01, 2019, Vol. 104 Issue 8, p3049-3067, 19p

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Periodical

De novo and inherited variants in ZNF292underlie a neurodevelopmental disorder with features of autism spectrum disorder

  • Source: Genetics in Medicine; March 2020, Vol. 22 Issue: 3 p538-546, 9p

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Academic Journal

CHRNA7 Deletions are Enriched in Risperidone-Treated Children and Adolescents.

  • Source: Journal of Child & Adolescent Psychopharmacology; Dec2017, Vol. 27 Issue 10, p908-915, 8p

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Academic Journal

Dual molecular diagnosis contributes to atypical Prader-Willi phenotype in monozygotic twins.

  • Source: American Journal of Medical Genetics. Part A; Sep2017, Vol. 173 Issue 9, p2451-2455, 5p

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  • 1-10 of  59 results for ""White, Janson""