Integration of SNP genotyping confidence scores in IBD inference

par Markus, Barak, Birk, Ohad S., Geiger, Dan
Publié 2011

Analysis of Free Online Physician Advice Services

par Cohen, Raphael, Elhadad, Michael, Birk, Ohad
Publié 2013

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

par Volodarsky, Michael, Langer, Yshaia, Birk, Ohad S
Publié dans BMC Med Genet (2014)

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

par Drabkin, Max, Birk, Ohad S., Birk, Ruth
Publié dans BMC Med Genet (2018)

CSI-OMIM - Clinical Synopsis Search in OMIM

par Cohen, Raphael, Gefen, Avitan, Elhadad, Michael, Birk, Ohad S
Publié 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

par Narkis, Ginat , Ofir, Rivka , Manor, Esther , Landau, Daniella , Elbedour, Khalil , Birk, Ohad S. 
Publié 2007

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

par Perez, Yonatan, Wormser, Ohad, Sadaka, Yair, Birk, Ruth, Narkis, Ginat, Birk, Ohad S.
Publié dans Biomed Res Int (2017)

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

par Cohen, Idan, Birnbaum, Ramon Y., Leibson, Keren, Taube, Ran, Sivan, Sara, Birk, Ohad S.
Publié 2012

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

par Narkis, Ginat , Ofir, Rivka , Landau, Daniella , Manor, Esther , Volokita, Micha , Hershkowitz, Relly , Elbedour, Khalil , Birk, Ohad S. 
Publié 2007

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

par Zolotushko, Jenny, Flusser, Hagit, Markus, Barak, Shelef, Ilan, Langer, Yshaia, Heverin, Maura, Björkhem, Ingemar, Sivan, Sara, Birk, Ohad S
Publié 2011

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

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

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

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

Mitochondrial Complex III Deficiency Associated with a Homozygous Mutation in UQCRQ

par Barel, Ortal, Shorer, Zamir, Flusser, Hagit, Ofir, Rivka, Narkis, Ginat, Finer, Gal, Shalev, Hanah, Nasasra, Ahmad, Saada, Ann, Birk, Ohad S.
Publié 2008

Association analysis identifies ZNF750 regulatory variants in psoriasis

par Birnbaum, Ramon Y, Hayashi, Genki, Cohen, Idan, Poon, Annie, Chen, Haoyan, Lam, Ernest T, Kwok, Pui-Yan, Birk, Ohad S, Liao, Wilson
Publié 2011

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

par Perez, Yonatan, Gradstein, Libe, Flusser, Hagit, Markus, Barak, Cohen, Idan, Langer, Yshaia, Marcus, Mira, Lifshitz, Tova, Kadir, Rotem, Birk, Ohad S
Publié 2014

The 60-kDa heat shock protein modulates allograft rejection

par Birk, Ohad S., Gur, Sara L., Elias, Dana, Margalit, Raanan, Mor, Felix, Carmi, Pnina, Bockova, Jana, Altmann, Daniel M., Cohen, Irun R.
Publié 1999

PLA2G6 Mutation Underlies Infantile Neuroaxonal Dystrophy

par Khateeb, Shareef, Flusser, Hagit, Ofir, Rivka, Shelef, Ilan, Narkis, Ginat, Vardi, Gideon, Shorer, Zamir, Levy, Rachel, Galil, Aharon, Elbedour, Khalil, Birk, Ohad S.
Publié 2006

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

par Feldshtein, Maya, Elkrinawi, Suliman, Yerushalmi, Baruch, Marcus, Barak, Vullo, Daniela, Romi, Hila, Ofir, Rivka, Landau, Daniel, Sivan, Sara, Supuran, Claudiu T., Birk, Ohad S.
Publié 2010

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

par Cohen, Idan, Silberstein, Eldad, Perez, Yonatan, Landau, Daniella, Elbedour, Khalil, Langer, Yshaia, Kadir, Rotem, Volodarsky, Michael, Sivan, Sara, Narkis, Ginat, Birk, Ohad S
Publié 2014

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

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