Integration of SNP genotyping confidence scores in IBD inference

Yazar: Markus, Barak, Birk, Ohad S., Geiger, Dan
Baskı/Yayın Bilgisi 2011

Analysis of Free Online Physician Advice Services

Yazar: Cohen, Raphael, Elhadad, Michael, Birk, Ohad
Baskı/Yayın Bilgisi 2013

A novel GLI3 mutation affecting the zinc finger domain leads to preaxial-postaxial polydactyly-syndactyly complex

Yazar: Volodarsky, Michael, Langer, Yshaia, Birk, Ohad S
Yayımlandı BMC Med Genet (2014)

Heterozygous versus homozygous phenotype caused by the same MC4R mutation: novel mutation affecting a large consanguineous kindred

Yazar: Drabkin, Max, Birk, Ohad S., Birk, Ruth
Yayımlandı BMC Med Genet (2018)

CSI-OMIM - Clinical Synopsis Search in OMIM

Yazar: Cohen, Raphael, Gefen, Avitan, Elhadad, Michael, Birk, Ohad S
Baskı/Yayın Bilgisi 2011

Lethal Congenital Contractural Syndrome Type 2 (LCCS2) Is Caused by a Mutation in ERBB3 (Her3), a Modulator of the Phosphatidylinositol-3-Kinase/Akt Pathway

Yazar: Narkis, Ginat , Ofir, Rivka , Manor, Esther , Landau, Daniella , Elbedour, Khalil , Birk, Ohad S. 
Baskı/Yayın Bilgisi 2007

A Rare Variant in PGAP2 Causes Autosomal Recessive Hyperphosphatasia with Mental Retardation Syndrome, with a Mild Phenotype in Heterozygous Carriers

Yazar: Perez, Yonatan, Wormser, Ohad, Sadaka, Yair, Birk, Ruth, Narkis, Ginat, Birk, Ohad S.
Yayımlandı Biomed Res Int (2017)

ZNF750 Is Expressed in Differentiated Keratinocytes and Regulates Epidermal Late Differentiation Genes

Yazar: Cohen, Idan, Birnbaum, Ramon Y., Leibson, Keren, Taube, Ran, Sivan, Sara, Birk, Ohad S.
Baskı/Yayın Bilgisi 2012

Lethal Contractural Syndrome Type 3 (LCCS3) Is Caused by a Mutation in PIP5K1C, Which Encodes PIPKIγ of the Phophatidylinsitol Pathway

Yazar: Narkis, Ginat , Ofir, Rivka , Landau, Daniella , Manor, Esther , Volokita, Micha , Hershkowitz, Relly , Elbedour, Khalil , Birk, Ohad S. 
Baskı/Yayın Bilgisi 2007

The desmosterolosis phenotype: spasticity, microcephaly and micrognathia with agenesis of corpus callosum and loss of white matter

Yazar: Zolotushko, Jenny, Flusser, Hagit, Markus, Barak, Shelef, Ilan, Langer, Yshaia, Heverin, Maura, Björkhem, Ingemar, Sivan, Sara, Birk, Ohad S
Baskı/Yayın Bilgisi 2011

Mutations in the microtubule-associated protein MAP11 (C7orf43) cause microcephaly in humans and zebrafish

Yazar: Perez, Yonatan, Bar-Yaacov, Reut, Kadir, Rotem, Wormser, Ohad, Shelef, Ilan, Birk, Ohad S, Flusser, Hagit, Birnbaum, Ramon Y
Yayımlandı Brain (2019)

A homozygous missense variant of SUMF1 in the Bedouin population extends the clinical spectrum in ultrarare neonatal multiple sulfatase deficiency

Yazar: Staretz‐Chacham, Orna, Schlotawa, Lars, Wormser, Ohad, Golan‐Tripto, Inbal, Birk, Ohad S., Ferreira, Carlos R., Dierks, Thomas, Radhakrishnan, Karthikeyan
Yayımlandı Mol Genet Genomic Med (2020)

Mitochondrial Complex III Deficiency Associated with a Homozygous Mutation in UQCRQ

Yazar: Barel, Ortal, Shorer, Zamir, Flusser, Hagit, Ofir, Rivka, Narkis, Ginat, Finer, Gal, Shalev, Hanah, Nasasra, Ahmad, Saada, Ann, Birk, Ohad S.
Baskı/Yayın Bilgisi 2008

Association analysis identifies ZNF750 regulatory variants in psoriasis

Yazar: Birnbaum, Ramon Y, Hayashi, Genki, Cohen, Idan, Poon, Annie, Chen, Haoyan, Lam, Ernest T, Kwok, Pui-Yan, Birk, Ohad S, Liao, Wilson
Baskı/Yayın Bilgisi 2011

Isolated foveal hypoplasia with secondary nystagmus and low vision is associated with a homozygous SLC38A8 mutation

Yazar: Perez, Yonatan, Gradstein, Libe, Flusser, Hagit, Markus, Barak, Cohen, Idan, Langer, Yshaia, Marcus, Mira, Lifshitz, Tova, Kadir, Rotem, Birk, Ohad S
Baskı/Yayın Bilgisi 2014

The 60-kDa heat shock protein modulates allograft rejection

Yazar: Birk, Ohad S., Gur, Sara L., Elias, Dana, Margalit, Raanan, Mor, Felix, Carmi, Pnina, Bockova, Jana, Altmann, Daniel M., Cohen, Irun R.
Baskı/Yayın Bilgisi 1999

PLA2G6 Mutation Underlies Infantile Neuroaxonal Dystrophy

Yazar: Khateeb, Shareef, Flusser, Hagit, Ofir, Rivka, Shelef, Ilan, Narkis, Ginat, Vardi, Gideon, Shorer, Zamir, Levy, Rachel, Galil, Aharon, Elbedour, Khalil, Birk, Ohad S.
Baskı/Yayın Bilgisi 2006

Hyperchlorhidrosis Caused by Homozygous Mutation in CA12, Encoding Carbonic Anhydrase XII

Yazar: Feldshtein, Maya, Elkrinawi, Suliman, Yerushalmi, Baruch, Marcus, Barak, Vullo, Daniela, Romi, Hila, Ofir, Rivka, Landau, Daniel, Sivan, Sara, Supuran, Claudiu T., Birk, Ohad S.
Baskı/Yayın Bilgisi 2010

Autosomal recessive Adams–Oliver syndrome caused by homozygous mutation in EOGT, encoding an EGF domain-specific O-GlcNAc transferase

Yazar: Cohen, Idan, Silberstein, Eldad, Perez, Yonatan, Landau, Daniella, Elbedour, Khalil, Langer, Yshaia, Kadir, Rotem, Volodarsky, Michael, Sivan, Sara, Narkis, Ginat, Birk, Ohad S
Baskı/Yayın Bilgisi 2014

Two novel MYH7 proline substitutions cause Laing Distal Myopathy-like phenotypes with variable expressivity and neck extensor contracture

Yazar: Feinstein-Linial, Miora, Buvoli, Massimo, Buvoli, Ada, Sadeh, Menachem, Dabby, Ron, Straussberg, Rachel, Shelef, Ilan, Dayan, Daniel, Leinwand, Leslie Anne, Birk, Ohad S.
Yayımlandı BMC Med Genet (2016)