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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.

Proceedings of the National Academy of Sciences of the United States of America|April 10, 2021

CD47 blockade reduces the pathologic features of experimental cerebral malaria and promotes survival of hosts with Plasmodium infectionLaughing Bear Torrez Dulgeroff, Miranda S Oakley, Michal C Tal, 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.

Nature|February 3, 2015

Mitochondrial DNA stress primes the antiviral innate immune responseA Phillip West, William Khoury-Hanold, Matthew Staron, et al.

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Showing results (151-160 of 165) 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.

Proceedings of the National Academy of Sciences of the United States of America|April 10, 2021

CD47 blockade reduces the pathologic features of experimental cerebral malaria and promotes survival of hosts with Plasmodium infectionLaughing Bear Torrez Dulgeroff, Miranda S Oakley, Michal C Tal, 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.

Nature|February 3, 2015

Mitochondrial DNA stress primes the antiviral innate immune responseA Phillip West, William Khoury-Hanold, Matthew Staron, et al.

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