Integration of SNP genotyping confidence scores in IBD inference

av Markus, Barak, Birk, Ohad S., Geiger, Dan
Publicerad 2011

Analysis of Free Online Physician Advice Services

av Cohen, Raphael, Elhadad, Michael, Birk, Ohad
Publicerad 2013

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

av Volodarsky, Michael, Langer, Yshaia, Birk, Ohad S
I publikationen BMC Med Genet (2014)

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

av Drabkin, Max, Birk, Ohad S., Birk, Ruth
I publikationen BMC Med Genet (2018)

CSI-OMIM - Clinical Synopsis Search in OMIM

av Cohen, Raphael, Gefen, Avitan, Elhadad, Michael, Birk, Ohad S
Publicerad 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

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

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

av Perez, Yonatan, Wormser, Ohad, Sadaka, Yair, Birk, Ruth, Narkis, Ginat, Birk, Ohad S.
I publikationen Biomed Res Int (2017)

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

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

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

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

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

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

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

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

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

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

Mitochondrial Complex III Deficiency Associated with a Homozygous Mutation in UQCRQ

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

Association analysis identifies ZNF750 regulatory variants in psoriasis

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

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

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

The 60-kDa heat shock protein modulates allograft rejection

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

PLA2G6 Mutation Underlies Infantile Neuroaxonal Dystrophy

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

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

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

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

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

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

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