Search Results - "Birk, Efrat"

SOBP Is Mutated in Syndromic and Nonsyndromic Intellectual Disability and Is Highly Expressed in the Brain Limbic System by Birk, Efrat, Har-Zahav, Adi, Manzini, Chiara M., Pasmanik-Chor, Metsada, Kornreich, Liora, Walsh, Christopher A., Noben-Trauth, Konrad, Albin, Adi, Simon, Amos J., Colleaux, Laurence, Morad, Yair, Rainshtein, Limor, Tischfield, David J., Wang, Peter, Magal, Nurit, Maya, Idit, Shoshani, Noa, Rechavi, Gideon, Gothelf, Doron, Maydan, Gal, Shohat, Mordechai, Basel-Vanagaite, Lina

“…Intellectual disability (ID) affects 1%–3% of the general population. We recently reported on a family with autosomal-recessive mental retardation with…”
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Microcephaly-Thin Corpus Callosum Syndrome Maps to 8q23.2-q24.12 by Halevy, Ayelet, MD, Basel-Vanagaite, Lina, MD, PhD, Shuper, Avinoam, MD, Helman, Shlomit, BA, Har-Zahav, Adi, MSc, Birk, Efrat, MSc, Maya, Idit, MD, Kornreich, Liora, MD, Inbar, Dov, MD, Nürnberg, Gudrun, MSc, Nürnberg, Peter, PhD, Steinberg, Tamar, MD, Straussberg, Rachel, MD

“…Abstract Postnatal microcephaly is defined as normal head circumference at birth, which progressively declines to more than 2 standard deviations below the…”
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Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN by Maydan, Gal, Noyman, Iris, Har-Zahav, Adi, Neriah, Ziva Ben, Pasmanik-Chor, Metsada, Yeheskel, Adva, Albin-Kaplanski, Adi, Maya, Idit, Magal, Nurit, Birk, Efrat, Simon, Amos J, Halevy, Ayelet, Rechavi, Gideon, Shohat, Mordechai, Straussberg, Rachel, Basel-Vanagaite, Lina

“…This study reports on a hitherto undescribed autosomal recessive syndrome characterised by dysmorphic features and multiple congenital anomalies together with…”
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RIN2 Deficiency Results in Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis: MACS Syndrome by Basel-Vanagaite, Lina, Sarig, Ofer, Hershkovitz, Dov, Fuchs-Telem, Dana, Rapaport, Debora, Gat, Andrea, Isman, Gila, Shirazi, Idit, Shohat, Mordechai, Enk, Claes D., Birk, Efrat, Kohlhase, Jürgen, Matysiak-Scholze, Uta, Maya, Idit, Knopf, Carlos, Peffekoven, Anette, Hennies, Hans-Christian, Bergman, Reuven, Horowitz, Mia, Ishida-Yamamoto, Akemi, Sprecher, Eli

“…Inherited disorders of elastic tissue represent a complex and heterogeneous group of diseases, characterized often by sagging skin and occasionally by…”
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X-linked mental retardation with alacrima and achalasia-Triple A syndrome or a new syndrome? by Marom, Daphna, Albin, Adi, Schwartz, Charles, Har-Zahav, Adi, Straussberg, Rachel, Bartel, Frank, Birk, Efrat, Inbar, Dov, Basel-Vanagaite, Lina

“…We describe a consanguineous Israeli Arab kindred with five males in two interrelated families with intellectual disabilities, alacrima, achalasia, and mild…”
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