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Mutations in ERGIC1 cause Arthrogryposis multiplex congenita, neuropathic type.
Published in:
Clinical Genetics, 2018, v. 93, n. 1, p. 160, doi. 10.1111/cge.13018
By:
- Reinstein, E.;
- Drasinover, V.;
- Lotan, R.;
- Gal‐Tanamy, M.;
- Bolocan Nachman, I.;
- Eyal, E.;
- Jaber, L.;
- Magal, N.;
- Shohat, M.
Publication type:
Article
Homozygous deletion of RAG1, RAG2 and 5′ region TRAF6 causes severe immune suppression and atypical osteopetrosis.
Published in:
Clinical Genetics, 2017, v. 91, n. 6, p. 902, doi. 10.1111/cge.12916
By:
- Weisz Hubshman, M.;
- Basel‐Vanagaite, L.;
- Krauss, A.;
- Konen, O.;
- Levy, Y.;
- Garty, B.Z.;
- Smirin‐Yosef, P.;
- Maya, I.;
- Lagovsky, I.;
- Taub, E.;
- Marom, D.;
- Gaash, D.;
- Shichrur, K.;
- Avigad, S.;
- Hayman‐Manzur, L.;
- Villa, A.;
- Sobacchi, C.;
- Shohat, M.;
- Yaniv, I.;
- Stein, J.
Publication type:
Article
High frequency of autosomal-recessive DFNB59 hearing loss in an isolated Arab population in Israel.
Published in:
Clinical Genetics, 2012, v. 82, n. 3, p. 271, doi. 10.1111/j.1399-0004.2011.01741.x
By:
- Borck, G;
- Rainshtein, L;
- Hellman-Aharony, S;
- Volk, AE;
- Friedrich, K;
- Taub, E;
- Magal, N;
- Kanaan, M;
- Kubisch, C;
- Shohat, M;
- Basel-Vanagaite, L
Publication type:
Article
Autosomal recessive ichthyosis with hypotrichosis syndrome: further delineation of the phenotype.
Published in:
Clinical Genetics, 2008, v. 74, n. 1, p. 47, doi. 10.1111/j.1399-0004.2008.01006.x
By:
- Avrahami, L.;
- Maas, S.;
- Pasmanik-Chor, M.;
- Rainshtein, L.;
- Magal, N.;
- Smitt, J. H. S.;
- van Marle, J.;
- Shohat, M.;
- Basel-Vanagaite, L.
Publication type:
Article
Expanding the phenotypic spectrum of L1CAM-associated disease.
Published in:
Clinical Genetics, 2006, v. 69, n. 5, p. 414, doi. 10.1111/j.1399-0004.2006.00607.x
By:
- Basel-Vanagaite, L.;
- Straussberg, R.;
- Friez, M. J.;
- Inbar, D.;
- Korenreich, L.;
- Shohat, M.;
- Schwartz, C. E.
Publication type:
Article
A putative new locus for an autosomal recessive cerebellar ataxia syndrome on chromosome 22q11.
Published in:
2005
By:
- Baris, H.;
- Legum, C.;
- Levin, L.;
- Magal, N.;
- Drasinover, V.;
- Tan, W.-H.;
- Halpern, G. J.;
- Shohat, T.;
- Shohat, M.
Publication type:
Letter
Facial clefting in an Arab town in Israel.
Published in:
Clinical Genetics, 2002, v. 61, n. 6, p. 448, doi. 10.1034/j.1399-0004.2002.610609.x
By:
- Jaber, L;
- Nahmani, A;
- Halpern, GJ;
- Shohat, M
Publication type:
Article
Osmotic Fragility of Erythrocytes in Newborn Infants Treated by Phototherapy.
Published in:
Acta Paediatrica, 1984, v. 73, n. 2, p. 254, doi. 10.1111/j.1651-2227.1984.tb09938.x
By:
- ALPERT, G.;
- SHOHAT, M.;
- REISNER, S. H.;
- DANON, Y. L.
Publication type:
Article
ENHANCED RENAL TUBULAR CALCIUM REABSORPTION INDEPENDENT OF PARATHORMONE ACTIVITY, IN CHILDREN ON LONG TERM ANTICONVULSANT THERAPY.
Published in:
Acta Paediatrica, 1980, v. 69, n. 3, p. 311, doi. 10.1111/j.1651-2227.1980.tb07084.x
By:
- ALADJEM, M.;
- SHOHAT, M.;
- ORDA, S.;
- BOICHIS, H.
Publication type:
Article
Prenatal diagnosis of twin zygosity by DNA 'fingerprint' analysis.
Published in:
Prenatal Diagnosis, 1994, v. 14, n. 4, p. 307, doi. 10.1002/pd.1970140412
By:
- Appelman, Z.;
- Manor, M.;
- Magal, N.;
- Caspi, B.;
- Shohat, M.;
- Blickstein, I.
Publication type:
Article
Short-Term Recombinant Human Growth Hormone Treatment Increases Growth Rate in Achondroplasia.
Published in:
Journal of Clinical Endocrinology & Metabolism, 1996, v. 81, n. 11, p. 4033, doi. 10.1210/jcem.81.11.8923856
By:
- RIMOIN, D. L.;
- SHOHAT, M.;
- TICK, D.;
- BARAKAT, S.;
- BU, X.;
- MELMED, S.
Publication type:
Article
Cut-off value of nuchal translucency as indication for chromosomal microarray analysis.
Published in:
2017
By:
- Maya, I.;
- Yacobson, S.;
- Kahana, S.;
- Yeshaya, J.;
- Tenne, T.;
- Agmon‐Fishman, I.;
- Cohen‐Vig, L.;
- Shohat, M.;
- Basel‐Vanagaite, L.;
- Sharony, R.
Publication type:
journal article
Higher than expected carrier rates for familial Mediterranean fever in various Jewish ethnic groups.
Published in:
European Journal of Human Genetics, 2000, v. 8, n. 4, p. 307, doi. 10.1038/sj.ejhg.5200446
By:
- Stoffman, N;
- Magal, N;
- Shohat, T;
- Lotan, R;
- Koman, S;
- Oron, A;
- Danon, Y;
- Halpern, G J;
- Lifshitz, Y;
- Shohat, M
Publication type:
Article
Phenotype–genotype correlation in familial Mediterranean fever: evidence for an association between Met694Val and amyloidosis.
Published in:
European Journal of Human Genetics, 1999, v. 7, n. 3, p. 287, doi. 10.1038/sj.ejhg.5200303
By:
- Shohat, M;
- Magal, N;
- Shohat, T;
- Chen, X;
- Dagan, T;
- Mimouni, A;
- Danon, Y;
- Lotan, R;
- Ogur, G;
- Sirin, A;
- Schlezinger, M;
- Halpern, G J;
- Schwabe, A;
- Kastner, D;
- Rotter, J I;
- Fischel-Ghodsian, N
Publication type:
Article
Cytokine Profile of Patients with Mycosis Fungoides and the Immunomodulatory Effect of AS101.
Published in:
Acta Dermato-Venereologica, 2001, v. 81, n. 4, p. 255, doi. 10.1080/00015550152572877
By:
- Shohat, M.;
- Hodak, E.;
- Sredni, B.;
- Shohat, B.;
- Sredni, D.;
- David, M.
Publication type:
Article
Implant locating and placement based on a novel tactile imaging and registration concept: a technical note.
Published in:
2007
By:
- Tal H;
- Schicho KA;
- Shohat M
Publication type:
Journal Article
Mutated nup62 causes autosomal recessive infantile bilateral striatal necrosis.
Published in:
2006
By:
- Basel-Vanagaite L;
- Muncher L;
- Straussberg R;
- Pasmanik-Chor M;
- Yahav M;
- Rainshtein L;
- Walsh CA;
- Magal N;
- Taub E;
- Drasinover V;
- Shalev H;
- Attia R;
- Rechavi G;
- Simon AJ;
- Shohat M
Publication type:
Journal Article
The Effect of Lumbar Puncture Procedure on Blood Glucose Level and Leukocyte Count in Infants.
Published in:
Clinical Pediatrics, 1987, v. 26, n. 9, p. 477, doi. 10.1177/000992288702600910
By:
- Shohat, M.;
- Goodman, Z.;
- Rogovin, H.;
- Nitzan, M.
Publication type:
Article
Adrenocortical Suppression by Topical Application of Glucocorticosteroids in Infants with Seborrheic Dermatitis.
Published in:
Clinical Pediatrics, 1986, v. 25, n. 4, p. 209, doi. 10.1177/000992288602500407
By:
- Shohat, M.;
- Mimouni, M.;
- Shuper, A.;
- Varsano, I.
Publication type:
Article
Localization of the Gene for Darier Disease to a 5-cM Interval on Chromosome 12q.
Published in:
Journal of Investigative Dermatology, 1994, v. 103, n. 4, p. 478, doi. 10.1111/1523-1747.ep12395577
By:
- Ikeda, S.;
- Wakem, P.;
- Haake, A.;
- Ewing, N.;
- Polakowska, R.;
- Sarret, Y.;
- Trattner, A.;
- David, M.;
- Shohat, M.;
- Schroeder, D. W.;
- Epstein Jr., E. H.;
- Goldsmith, L. A.
Publication type:
Article
Triple-Test Screening in In Vitro Fertilization Pregnancies.
Published in:
Journal of Assisted Reproduction & Genetics, 2001, v. 18, n. 4, p. 226, doi. 10.1023/A:1009455912670
By:
- Bar-Hava, I.;
- Yitzhak, M.;
- Krissi, H.;
- Shohat, M.;
- Shalev, J.;
- Czitron, B.;
- Ben-Rafael, Z.;
- Orvieto, R.
Publication type:
Article
Strict glycemic control in diabetic pregnancy-implications for second-trimester screening for Down syndrome.
Published in:
Prenatal Diagnosis, 2003, v. 23, n. 11, p. 888, doi. 10.1002/pd.719
By:
- Peled, Y.;
- Gilboa, Y.;
- Perri, T.;
- Shohat, M.;
- Chen, R.;
- Bar, J.;
- Hod, M.;
- Pardo, J.
Publication type:
Article
A novel allele in the promoter region of the human serotonin transporter gene.
Published in:
Molecular Psychiatry, 1999, v. 4, n. 1, p. 97, doi. 10.1038/sj.mp.4000449
By:
- Michaelovsky, E.;
- Frisch, A.;
- Rockah, R.;
- Peleg, L.;
- Magal, N.;
- Shohat, M.;
- Weizman, R.
Publication type:
Article
Plasma ammonia levels in preterm infants receiving parenteral nutrition with crystalline L-amino acids.
Published in:
1985
By:
- Shohat, M.;
- Reisner, S.H.
Publication type:
Letter
Plasma ammonia levels in preterm infants receiving parenteral nutrition with crystalline L-amino acids.
Published in:
1984
By:
- Shohat, M.;
- Wielunsky, E.;
- Reisner, S.H.
Publication type:
journal article
Overexpression of a set of genes, including WISP-1, common to pulmonary metastases of both mouse D122 Lewis lung carcinoma and B16-F10.9 melanoma cell lines.
Published in:
2003
By:
- Margalit, O;
- Eisenbach, L;
- Amariglio, N;
- Kaminski, N;
- Harmelin, A;
- Pfeffer, R;
- Shohat, M;
- Rechavi, G;
- Berger, R
Publication type:
journal article
A new genetic isolate of acrodermatitis enteropathica with a novel mutation.
Published in:
2009
By:
- Vardi, A.;
- Anikster, Y.;
- Eisenkraft, A.;
- Shohat, M.;
- Abu-Much, J.;
- Eisenkraft, S.;
- Sredni, B.;
- Nir, U.
Publication type:
Letter
A novel GJB6 missense mutation in hidrotic ectodermal dysplasia 2 (Clouston syndrome) broadens its genotypic basis.
Published in:
British Journal of Dermatology, 2008, v. 159, n. 6, p. 1373, doi. 10.1111/j.1365-2133.2008.08796.x
By:
- Baris, H.N.;
- Zlotogorski, A.;
- Peretz-Amit, G.;
- Doviner, V.;
- Shohat, M.;
- Reznik-Wolf, H.;
- Pras, E.
Publication type:
Article
Human T-cell lymphotropic virus type 1 provirus and phylogenetic analysis in patients with mycosis fungoides and their family relatives.
Published in:
British Journal of Dermatology, 2006, v. 155, n. 2, p. 372, doi. 10.1111/j.1365-2133.2006.07312.x
By:
- Shohat, M.;
- Shohat, B.;
- Mimouni, D.;
- Pauli, G.;
- Ellerbrok, H.;
- David, M.;
- Hodak, E.
Publication type:
Article
In vitrocytokine profile in childhood alopecia areata and the immunomodulatory effects of AS-101.
Published in:
Clinical & Experimental Dermatology, 2005, v. 30, n. 4, p. 432, doi. 10.1111/j.1365-2230.2005.01817.x
By:
- Shohat, M.;
- Mimouni, D.;
- Ben-Amitai, D.;
- Sredni, B.;
- Sredni, D.;
- Shohat, B.;
- David, M.
Publication type:
Article
Evaluation of bone surface registration applying a micro-needle array.
Published in:
2007
By:
- Schicho K;
- Seemann R;
- Cohen V;
- Traxler H;
- Weinstein U;
- Shohat M;
- Slovin Z;
- Figl M;
- Czerny C;
- Ewers R;
- Tal H
Publication type:
Journal Article
Further Delineation of Spondyloepimetaphyseal Dysplasia Shohat Type, and a Review of the Literature.
Published in:
International Journal on Disability & Human Development (De Gruyter), 1999, v. 1, n. 1, p. 21, doi. 10.1515/ijdhd.1999.1.1.21
By:
- Basel-Vanagaite, L.;
- Shohat, M.
Publication type:
Article

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