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M Shohat

Showing results (181-190 of 190) with videos related to

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American Journal of Medical Genetics|March 17, 2001
Novel approach to the molecular diagnosis of Marfan syndrome: application to sporadic cases and in prenatal diagnosisI Toudjarska, M W Kilpatrick, P Lembessis, et al.
Molecular Genetics and Metabolism|December 16, 1998
Amyloidosis in familial mediterranean fever is associated with a specific ancestral haplotype in the MEFV locusM Shohat, R Lotan, N Magal, et al.
Human Molecular Genetics|September 1, 1997
Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in MediterraneansL Zelante, P Gasparini, X Estivill, et al.
European Journal of Human Genetics : EJHG|May 11, 1999
Phenotype-genotype correlation in familial Mediterranean fever: evidence for an association between Met694Val and amyloidosisM Shohat, N Magal, T Shohat, et al.
Journal of Medical Genetics|July 22, 2005
The CC2D1A, a member of a new gene family with C2 domains, is involved in autosomal recessive non-syndromic mental retardationL Basel-Vanagaite, R Attia, M Yahav, et al.
American Journal of Human Genetics|March 1, 1996
Linkage disequilibrium mapping places the gene causing familial Mediterranean fever close to D16S246E N Levy, Y Shen, A Kupelian, et al.
Clinical Genetics|November 4, 2016
Homozygous deletion of RAG1, RAG2 and 5' region TRAF6 causes severe immune suppression and atypical osteopetrosisM Weisz Hubshman, L Basel-Vanagaite, A Krauss, et al.
Human Mutation|September 23, 1998
Prevalence of glucocerebrosidase mutations in the Israeli Ashkenazi Jewish populationM Horowitz, M Pasmanik-Chor, Z Borochowitz, et al.
Genomics|May 15, 1997
Construction of a 1-Mb restriction-mapped cosmid contig containing the candidate region for the familial Mediterranean fever locus (MEFV) on chromosome 16p 13.3R Sood, T Blake, I Aksentijevich, et al.
Genomics|November 5, 1997
A high-resolution genetic map of the familial Mediterranean fever candidate region allows identification of haplotype-sharing among ethnic groupsJ E Balow, D A Shelton, A Orsborn, et al.
Pageof 19

Showing results (181-190 of 190) with videos related to

Sort By:
Pageof 19
You have reached the last page of results.This site can display upto 190 results.
American Journal of Medical Genetics|March 17, 2001
Novel approach to the molecular diagnosis of Marfan syndrome: application to sporadic cases and in prenatal diagnosisI Toudjarska, M W Kilpatrick, P Lembessis, et al.
Molecular Genetics and Metabolism|December 16, 1998
Amyloidosis in familial mediterranean fever is associated with a specific ancestral haplotype in the MEFV locusM Shohat, R Lotan, N Magal, et al.
Human Molecular Genetics|September 1, 1997
Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in MediterraneansL Zelante, P Gasparini, X Estivill, et al.
European Journal of Human Genetics : EJHG|May 11, 1999
Phenotype-genotype correlation in familial Mediterranean fever: evidence for an association between Met694Val and amyloidosisM Shohat, N Magal, T Shohat, et al.
Journal of Medical Genetics|July 22, 2005
The CC2D1A, a member of a new gene family with C2 domains, is involved in autosomal recessive non-syndromic mental retardationL Basel-Vanagaite, R Attia, M Yahav, et al.
American Journal of Human Genetics|March 1, 1996
Linkage disequilibrium mapping places the gene causing familial Mediterranean fever close to D16S246E N Levy, Y Shen, A Kupelian, et al.
Clinical Genetics|November 4, 2016
Homozygous deletion of RAG1, RAG2 and 5' region TRAF6 causes severe immune suppression and atypical osteopetrosisM Weisz Hubshman, L Basel-Vanagaite, A Krauss, et al.
Human Mutation|September 23, 1998
Prevalence of glucocerebrosidase mutations in the Israeli Ashkenazi Jewish populationM Horowitz, M Pasmanik-Chor, Z Borochowitz, et al.
Genomics|May 15, 1997
Construction of a 1-Mb restriction-mapped cosmid contig containing the candidate region for the familial Mediterranean fever locus (MEFV) on chromosome 16p 13.3R Sood, T Blake, I Aksentijevich, et al.
Genomics|November 5, 1997
A high-resolution genetic map of the familial Mediterranean fever candidate region allows identification of haplotype-sharing among ethnic groupsJ E Balow, D A Shelton, A Orsborn, et al.
Pageof 19