Loss of function of PCDH12 underlies recessive microcephaly mimicking intrauterine infection
Aran, Adi, Rosenfeld, Nuphar, Jaron, Ranit, Renbaum, Paul, Zuckerman, Shachar, Fridman, Hila, Zeligson, Sharon, Segel, Reeval, Kohn, Yoav, Kamal, Lara, Kanaan, Moien, Segev, Yoram, Mazaki, Eyal, Rabinowitz, Ron, Shen, Ori, Lee, Ming, Walsh, Tom, King, Mary Claire, Gulsuner, Suleyman, Levy-Lahad, Ephrat
Published in Neurology (24.05.2016)
Published in Neurology (24.05.2016)
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Journal Article
Carrier screening for Krabbe disease in an isolated inbred community
Ezer, Shlomit, Zuckerman, Shachar, Segel, Reeval, Zlotogora, Joël
Published in American journal of medical genetics. Part A (01.09.2022)
Published in American journal of medical genetics. Part A (01.09.2022)
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Journal Article
A new prenatal sonographic sign of epidermolysis bullosa
Chen, Daniela, Zuckerman, Shachar, Akerman, Yehudit, Shen, Ori
Published in Journal of clinical ultrasound (01.01.2021)
Published in Journal of clinical ultrasound (01.01.2021)
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Journal Article
Expanding the phenotypic spectrum of COLEC10‐Related 3MC syndrome: A glimpse into COLEC10‐Related 3MC syndrome in the Ashkenazi Jewish population
Rabin, Rachel, Hirsch, Yoel, Chung, Wendy K., Ekstein, Josef, Levy‐Lahad, Ephrat, Zuckerman, Shachar, Mor‐Shaked, Hagar, Meiner, Vardiella, Booth, Kevin T., Pappas, John
Published in American journal of medical genetics. Part A (01.10.2022)
Published in American journal of medical genetics. Part A (01.10.2022)
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Journal Article
Prenatal Sonographic Diagnosis of Retinal Nonattachment
Shen, Ori, Zuckerman, Shachar, Cohen, Paul, Rabinowitz, Ron
Published in Journal of ultrasound in medicine (01.06.2014)
Published in Journal of ultrasound in medicine (01.06.2014)
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Journal Article
Carrier Screening for Gaucher Disease: Lessons for Low-Penetrance, Treatable Diseases
Zuckerman, Shachar, Lahad, Amnon, Shmueli, Amir, Zimran, Ari, Peleg, Leah, Orr-Urtreger, Avi, Levy-Lahad, Ephrat, Sagi, Michal
Published in JAMA : the journal of the American Medical Association (19.09.2007)
Published in JAMA : the journal of the American Medical Association (19.09.2007)
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Journal Article
Lack of guidelines and translational knowledge is hindering the implementation of psychiatric genetic counseling and testing within Europe – A multi-professional survey study
Koido, Kati, Malmgren, Charlotta Ingvoldstad, Pojskic, Lejla, Almos, Peter Z., Bergen, Sarah E., Borg, Isabella, Božina, Nada, Coviello, Domenico A., Degenhardt, Franziska, Ganoci, Lana, Jensen, Uffe B., Durand-Lennad, Louise, Laurent-Levinson, Claudine, McQuillin, Andrew, Navickas, Alvydas, Pace, Nikolai P., Paneque, Milena, Rietschel, Marcella, Grigoroiu-Serbanescu, Maria, Soller, Maria Johansson, Suvisaari, Jaana, Utkus, Algirdas, Van Assche, Evelien, Vissouze, Lily, Zuckerman, Shachar, Chaumette, Boris, Tammimies, Kristiina
Published in European journal of medical genetics (01.08.2023)
Published in European journal of medical genetics (01.08.2023)
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Conflicts regarding genetic counseling for fragile X syndrome screening: A survey of clinical geneticists and genetic counselors in Israel
Lieberman, Sari, Zuckerman, Shachar, Levy-Lahad, Ephrat, Altarescu, Gheona
Published in American journal of medical genetics. Part A (01.09.2011)
Published in American journal of medical genetics. Part A (01.09.2011)
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Journal Article
A new prenatal sonographic sign of epidermolysis bullosa
Chen, Daniela, Zuckerman, Shachar, Akerman, Yehudit, Shen, Ori
Published in Journal of clinical ultrasound : JCU (01.01.2021)
Published in Journal of clinical ultrasound : JCU (01.01.2021)
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Expanding the phenotypic spectrum of COLEC10-Related 3MC syndrome: A glimpse into COLEC10-Related 3MC syndrome in the Ashkenazi Jewish population
Rabin, Rachel, Hirsch, Yoel, Chung, Wendy K, Ekstein, Josef, Levy-Lahad, Ephrat, Zuckerman, Shachar, Mor-Shaked, Hagar, Meiner, Vardiella, Booth, Kevin T, Pappas, John
Published in American journal of medical genetics. Part A (01.10.2022)
Published in American journal of medical genetics. Part A (01.10.2022)
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