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7 results for Noyman,+Iris

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Severe neonatal hypotonia due to SLC30A5 variant affecting function of ZnT5 zinc transporter
Author / Creator:Dolgin, Vadim ; Chabosseau, Pauline ; Bistritzer, Jacob ; Noyman, Iris ; Staretz‐Chacham, Orna ; Wormser, Ohad ; Hadar, Noam ; Eskin‐Schwartz, Marina ; Kanengisser‐Pines, Bibi ; Narkis, Ginat ; Abramsky, Ramy ; Shany, Eilon ; Rutter, Guy A. ; Marks, Kyla ; Birk, Ohad S.
Publisher:Hoboken, USA: John Wiley & Sons, Inc
Journal title:JIMD reports, 2025-01, Vol.66 (1), p.e12465-n/a
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Adeno-associated virus serotype 9 antibody titers in patients with SMA pre-screened for treatment with onasemnogene abeparvovec –routine care evidence
Author / Creator:Aharoni, Sharon ; Bistritzer, Jacob ; Levine, Hagit ; Sagi, Liora ; Fattal-Valevski, Aviva ; Ginzberg, Mira ; Noyman, Iris ; Cohen, Rony ; Nevo, Yoram
Publisher:London: Nature Publishing Group UK
Journal title:Gene therapy, 2023-02, Vol.30 (1-2), p.101-106
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UNC80 mutation causes a syndrome of hypotonia, severe intellectual disability, dyskinesia and dysmorphism, similar to that caused by mutations in its interacting cation channel NALCN
Author / Creator:Perez, Yonatan ; Kadir, Rotem ; Volodarsky, Michael ; Noyman, Iris ; Flusser, Hagit ; Shorer, Zamir ; Gradstein, Libe ; Birnbaum, Ramon Y ; Birk, Ohad S
Publisher:England: BMJ Publishing Group LTD
Journal title:Journal of medical genetics, 2016-06, Vol.53 (6), p.397-402
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New DSM-5 criteria for ADHD — Does it matter?
Author / Creator:Rigler, Tohar ; Manor, Iris ; Kalansky, Adie ; Shorer, Zamir ; Noyman, Iris ; Sadaka, Yair
Publisher:United States: Elsevier Inc
Journal title:Comprehensive psychiatry, 2016-07, Vol.68, p.56-59
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Seizures in Premature Infants Born at Less than 28 Weeks’ Gestation
Author / Creator:Meledin, Irina ; Tzur-Sebton, Hilla ; Noyman, Iris ; Friger, Michael ; Hazan, Guy ; Shany, Eilon
Publisher:Basel, Switzerland: S. Karger AG
Journal title:Neonatology (Basel, Switzerland), 2019-04, Vol.115 (3), p.247-255
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Progressive hereditary spastic paraplegia caused by a homozygous KY mutation
Author / Creator:Yogev, Yuval ; Perez, Yonatan ; Noyman, Iris ; Madegem, Anwar Abu ; Flusser, Hagit ; Shorer, Zamir ; Cohen, Eugene ; Kachko, Leonid ; Michaelovsky, Analia ; Birk, Ruth ; Koifman, Arie ; Drabkin, Max ; Wormser, Ohad ; Halperin, Daniel ; Kadir, Rotem ; Birk, Ohad S
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2017-08, Vol.25 (8), p.966-972
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Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN
Author / Creator: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
Publisher:London: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2011-06, Vol.48 (6), p.383-389
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Severe neonatal hypotonia due to SLC30A5 variant affecting function of ZnT5 zinc transporter

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Adeno-associated virus serotype 9 antibody titers in patients with SMA pre-screened for treatment with onasemnogene abeparvovec –routine care evidence

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UNC80 mutation causes a syndrome of hypotonia, severe intellectual disability, dyskinesia and dysmorphism, similar to that caused by mutations in its interacting cation channel NALCN

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New DSM-5 criteria for ADHD — Does it matter?

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Seizures in Premature Infants Born at Less than 28 Weeks’ Gestation

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Progressive hereditary spastic paraplegia caused by a homozygous KY mutation

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Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN

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