Ayman El-Hattab - Dissemin

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All papers authored by Ayman El-Hattab

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2023 Takeya Adachi

ORCID

, Ayman W. El-Hattab

ORCID

ORCID

, Katya A. Nogales Crespo

ORCID

, Camila I. Quirland Lazo, Maurizio Scarpa

ORCID

, Marshall Summar, Duangrurdee Wattanasirichaigoon

ORCID

Enhancing Equitable Access to Rare Disease Diagnosis and Treatment around the World: A Review of Evidence, Policies, and Challenges

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This paper was not found in any repository, but could be made available legally by the author.

2019 Jehan Suleiman, Korbinian M. Riedhammer

ORCID

, Timothy Jicinsky, Melinda Mundt, Laurie Werner, Mirjana Gusic, Anna L. Burgemeister, Hessa S. Alsaif, Maha Abdulrahim, Nabil N. Moghrabi, Manal Nicolas‐Jilwan, Moeenaldeen AlSayed, Weimin Bi, Srirangan Sampath, Fowzan S. Alkuraya

ORCID

and 1 other authors

Homozygous loss‐of‐function variants of TASP1 , a gene encoding an activator of the histone methyltransferases KMT2A and KMT2D, cause a syndrome of developmental delay, happy demeanor, distinctive facial features, and congenital anomalies

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