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Allison Tam

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NPJ Genomic Medicine|October 23, 2023

Author Correction: Diagnostic yield of pediatric and prenatal exome sequencing in a diverse populationAnne Slavotinek, Shannon Rego, Nuriye Sahin-Hodoglugil, et al.

American Journal of Human Genetics|November 9, 2022

EMILIN1 deficiency causes arterial tortuosity with osteopenia and connects impaired elastogenesis with defective collagen fibrillogenesisChristin S Adamo, Aude Beyens, Alvise Schiavinato, et al.

American Journal of Human Genetics|December 5, 2017

A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb MalformationsElizabeth E Palmer, Raman Kumar, Christopher T Gordon, et al.

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Search research articles

Showing results (21-30 of 23) with videos related to

Sort By:

Pageof 3

You have reached the last page of results.This site can display upto 23 results.

NPJ Genomic Medicine|October 23, 2023

Author Correction: Diagnostic yield of pediatric and prenatal exome sequencing in a diverse populationAnne Slavotinek, Shannon Rego, Nuriye Sahin-Hodoglugil, et al.

American Journal of Human Genetics|November 9, 2022

EMILIN1 deficiency causes arterial tortuosity with osteopenia and connects impaired elastogenesis with defective collagen fibrillogenesisChristin S Adamo, Aude Beyens, Alvise Schiavinato, et al.

American Journal of Human Genetics|December 5, 2017

A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb MalformationsElizabeth E Palmer, Raman Kumar, Christopher T Gordon, et al.

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