Whole‐genome sequencing reveals complex chromosome rearrangement disrupting NIPBL in infant with Cornelia de Lange syndrome
Plesser Duvdevani, Morasha, Pettersson, Maria, Eisfeldt, Jesper, Avraham, Ortal, Dagan, Judith, Frumkin, Ayala, Lupski, James R., Lindstrand, Anna, Harel, Tamar
Published in American journal of medical genetics. Part A (01.05.2020)
Published in American journal of medical genetics. Part A (01.05.2020)
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Journal Article
Bi-allelic variants in neuronal cell adhesion molecule cause a neurodevelopmental disorder characterized by developmental delay, hypotonia, neuropathy/spasticity
Kurolap, Alina, Kreuder, Florian, Gonzaga-Jauregui, Claudia, Duvdevani, Morasha Plesser, Harel, Tamar, Tammer, Luna, Xin, Baozhong, Bakhtiari, Somayeh, Rice, James, van Eyk, Clare L., Gecz, Jozef, Mah, Jean K., Atkinson, Derek, Cope, Heidi, Sullivan, Jennifer A., Douek, Alon M., Colquhoun, Daniel, Henry, Jason, Wlodkowic, Donald, Parman, Yesim, Candayan, Ayşe, Kocasoy-Orhan, Elif, Ilivitzki, Anat, Soudry, Shiri, Leibu, Rina, Glaser, Fabian, Sency, Valerie, Ast, Gil, Shashi, Vandana, Fahey, Michael C., Battaloğlu, Esra, Jordanova, Albena, Meiner, Vardiella, Innes, A. Micheil, Wang, Heng, Elpeleg, Orly, Kruer, Michael C., Kaslin, Jan, Baris Feldman, Hagit
Published in American journal of human genetics (03.03.2022)
Published in American journal of human genetics (03.03.2022)
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Journal Article
Mutated MCM9 is associated with predisposition to hereditary mixed polyposis and colorectal cancer in addition to primary ovarian failure
Goldberg, Yael, Halpern, Naama, Hubert, Ayala, Adler, Samuel N, Cohen, Sherri, Plesser-Duvdevani, Morasha, Pappo, Orit, Shaag, Avraham, Meiner, Vardiella
Published in Cancer genetics (01.12.2015)
Published in Cancer genetics (01.12.2015)
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Journal Article
"The Most Important Test You’ll Ever Take"?: Attitudes toward confidential carrier matching and open individual testing among modern-religious Jews in Israel
Frumkin, Ayala, Raz, Aviad E., Plesser-Duvdevani, Morasha, Lieberman, Sari
Published in Social science & medicine (1982) (01.12.2011)
Published in Social science & medicine (1982) (01.12.2011)
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Journal Article
Transaldolase Deficiency: A New Case Expands the Phenotypic Spectrum
Banne, Ehud, Meiner, Vardiella, Shaag, Avraham, Katz-Brull, Rachel, Gamliel, Ayelet, Korman, Stanley, Cederboim, Smadar Horowitz, Duvdevani, Morasha Plesser, Frumkin, Ayala, Zilkha, Amir, Kapuller, Vadim, Arbell, Dan, Cohen, Elite, Eventov-Friedman, Smadar
Published in JIMD Reports, Volume 26 (01.01.2016)
Published in JIMD Reports, Volume 26 (01.01.2016)
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Book Chapter
Journal Article