Ryan H Peretz

ORCID

Publication Activity (10 Years)

Years Active: 2020-2023
Publications (10 Years): 8

Top Venues

American journal of medical genetics. Part A

JIMD reports

This page only lists publications with an associated author ORCID identifier.

Publications

RaeLynn Forsyth, Ryan H Peretz, Angela Dempsey, Jacquelyn Britton, Lisa Kratz, Ada Hamosh, Hilary Vernon, Mark L Batshaw, David Valle
The remarkable journey of one female individual with ornithine transcarbamylase deficiency diagnosed post-mortem. JIMD reports 64 (3) (2023)
RaeLynn Forsyth, Ryan H Peretz, Angela Dempsey, Jacquelyn Britton, Lisa Kratz, Ada Hamosh, Hilary Vernon, Mark L Batshaw, David Valle
The remarkable journey of one female individual with ornithine transcarbamylase deficiency diagnosed post-mortem. JIMD reports 64 (3) (2023)
Ryan H Peretz, Wadih M Zein, Robert B Hufnagel, Christine Ku, Rena Godfrey, Lynne Wolfe, David Adams, William Gahl, Camilo Toro
A de novo hexokinase 1 (HK1) variant presenting as Boucher-Neuhäuser syndrome. American journal of medical genetics. Part A 191 (2) (2022)
Ryan H Peretz, Wadih M Zein, Robert B Hufnagel, Christine Ku, Rena Godfrey, Lynne Wolfe, David Adams, William Gahl, Camilo Toro
A de novo hexokinase 1 (HK1) variant presenting as Boucher-Neuhäuser syndrome. American journal of medical genetics. Part A 191 (2) (2022)
Ryan H Peretz, Wadih M Zein, Robert B Hufnagel, Christine Ku, Rena Godfrey, Lynne Wolfe, David Adams, William Gahl, Camilo Toro
A de novo hexokinase 1 (HK1) variant presenting as Boucher-Neuhäuser syndrome. American journal of medical genetics. Part A (2022)
Ryan H Peretz, Wadih M Zein, Robert B Hufnagel, Christine Ku, Rena Godfrey, Lynne Wolfe, David Adams, William Gahl, Camilo Toro
A de novo hexokinase 1 (HK1) variant presenting as Boucher-Neuhäuser syndrome. American journal of medical genetics. Part A 191 (2) (2022)
Ryan H Peretz, Wadih M Zein, Robert B Hufnagel, Christine Ku, Rena Godfrey, Lynne Wolfe, David Adams, William Gahl, Camilo Toro
A de novo hexokinase 1 (HK1) variant presenting as Boucher-Neuhäuser syndrome. American journal of medical genetics. Part A 191 (2) (2022)
Ryan H Peretz, Christina H Flora, Darius J Adams
Natural history of the oldest known females with mucopolysaccharidosis type IVA (Morquio A syndrome). American journal of medical genetics. Part A 182 (6) (2020)

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Publication Activity (10 Years)

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Ryan H Peretz