Orly Elpeleg

ORCID

Publication Activity (10 Years)

Years Active: 2017-2023
Publications (10 Years): 6

Top Venues

American journal of medical genetics. Part A

medRxiv : the preprint server for health sciences

The Journal of clinical endocrinology and metabolism

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

Publications

Eden Engal, Kaisa Teele Oja, Reza Maroofian, Ophir Geminder, Thuy-Linh Le, Evyatar Mor, Naama Tzvi, Naama Elefant, Maha Saad Zaki, Joseph G Gleeson, Kai Muru, Sander Pajusalu, Monica Hsiung Wojcik, Divya Pachat, Marwa Abd Elmaksoud, Won Chan Jeong, Hane Lee, Peter Bauer, Giovanni Zifarelli, Henry Houlden, Orly Elpeleg, Chris Gordon, Tamar Harel, Katrin Õunap, Maayan Salton, Hagar Mor-Shaked
Biallelic loss of function variants in WBP4 , encoding a spliceosome protein, result in a variable neurodevelopmental delay syndrome. medRxiv : the preprint server for health sciences (2023)
Maher A Shahroor, Francesco M Lasorsa, Vito Porcelli, Imad Dweikat, Maria Antonietta Di Noia, Michal Gur, Giulia Agostino, Avraham Shaag, Teresa Rinaldi, Giuseppe Gasparre, Flora Guerra, Alessandra Castegna, Simona Todisco, Bassam Abu-Libdeh, Orly Elpeleg, Luigi Palmieri
PNC2 (SLC25A36) Deficiency Associated With the Hyperinsulinism/Hyperammonemia Syndrome. The Journal of clinical endocrinology and metabolism 107 (5) (2022)
Hagit Daum, Hagar Mor-Shaked, Asaf Ta-Shma, Avraham Shaag, Shira Silverstein, Mordechai Shohat, Orly Elpeleg, Vardiella Meiner, Tamar Harel
Grandparental genotyping enhances exome variant interpretation. American journal of medical genetics. Part A 182 (4) (2020)
Elena Chervinsky, Morad Khayat, Sofia Soltsman, Hatem Habiballa, Orly Elpeleg, Stavit Shalev
A homozygous TTN gene variant associated with lethal congenital contracture syndrome. American journal of medical genetics. Part A 176 (4) (2019)
Mirna Assoum, Matthew A Lines, Orly Elpeleg, Véronique Darmency, Sharon Whiting, Simon Edvardson, Orrin Devinsky, Erin Heinzen, Rebecca Rose Hernan, Corinne Antignac, Jean-François Deleuze, Vincent Des Portes, Aurélie Bertholet-Thomas, Alexandre Belot, Eric Geller, Martine Lemesle, Yannis Duffourd, Christel Thauvin-Robinet, Julien Thevenon, Wendy Chung, Daniel H Lowenstein, Laurence Olivier-Faivre
Further delineation of the clinical spectrum of de novo TRIM8 truncating mutations. American journal of medical genetics. Part A 176 (11) (2018)
Vincent J Guen, Simon Edvardson, Nitay D Fraenkel, Aviva Fattal-Valevski, Chaim Jalas, Irene Anteby, Avraham Shaag, Talia Dor, David Gillis, Eitan Kerem, Jacqueline A Lees, Pierre Colas, Orly Elpeleg
A homozygous deleterious CDK10 mutation in a patient with agenesis of corpus callosum, retinopathy, and deafness. American journal of medical genetics. Part A 176 (1) (2017)

Orly Elpeleg.css-eqlu8i{font-size:small;padding-left:4px;}

Publication Activity (10 Years)

Top Topics

Top Venues

Orly Elpeleg