Publications by authors named "Poupak Javaher"

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Novel variants in the SOX11 gene: clinical description of seven new patients.
Beatriz Schincariol-Manhe, Érica Campagnolo, Samira Spineli-Silva, Nicole de Leeuw, Gabriela Roldão Correia-Costa, Poupak Javaher

Eur J Hum Genet· December 2024

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Cation leak through the ATP1A3 pump causes spasticity and intellectual disability.
Daniel G Calame, Cristina Moreno Vadillo, Seth Berger, Timothy Lotze, Marwan Shinawi, Javaher Poupak

Brain· August 2023

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The wide variation of definitions of genetic testing in international recommendations, guidelines and reports.
Jorge Sequeiros, Milena Paneque, Bárbara Guimarães, Elina Rantanen, Poupak Javaher

J Community Genet· April 2012

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Should TSPYL1 mutation screening be included in routine diagnostics of male idiopathic infertility?
Poupak Javaher, Manfred Stuhrmann, Christina Wilke, Eileen Frenzel, Georgi Manukjan

Fertil Steril· February 2012

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Genitopatellar syndrome, sensorineural hearing loss, and cleft palate.
Corinna Bergmann, Susanne Spranger, Poupak Javaher, Martin Ptok

Oral Maxillofac Surg· June 2011

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Scope of definitions of genetic testing: evidence from a EuroGentest survey.
Jorge Pinto-Basto, Bárbara Guimarães, Elina Rantanen, Poupak Javaher, Irma Nippert

J Community Genet· March 2010

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EuroGentest: DNA-based testing for heritable disorders in Europe.
Poupak Javaher, Helena Kaariainen, Ulf Kristoffersson, Irmgard Nippert, Jorge Sequeiros

Community Genet· March 2008

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