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British Journal of Haematology|May 31, 2001

Deletion of the factor IX gene as a result of translocation t(X;1) in a girl affected by haemophilia BA C Krepischi-Santos, J D Carneiro, M Svartman, et al.

American Journal of Medical Genetics|May 20, 1999

Fully mutated and gray-zone FRAXA alleles in Brazilian mentally retarded boysL A Haddad, M J Aguiar, S S Costa, et al.

Human Genetics|January 1, 1981

H-Y antigen expression in a case of mixed gonadal dysgenesisC A Moreira-Filho, A T Amaral, P G Otto, et al.

Molecular Syndromology|October 30, 2010

An Illustrative Case of Neurofibromatosis Type 1 and NF1 MicrodeletionL A Praxedes, F M Pereira, J F Mazzeu, et al.

Cytogenetic and Genome Research|July 21, 2009

Constitutional haploinsufficiency of tumor suppressor genes in mentally retarded patients with microdeletions in 17p13.1A C V Krepischi-Santos, D Rajan, I K Temple, et al.

Journal of Medical Genetics|June 28, 2005

Array-CGH detection of micro rearrangements in mentally retarded individuals: clinical significance of imbalances present both in affected children and normal parentsC Rosenberg, J Knijnenburg, E Bakker, et al.

Journal of Medical Genetics|May 6, 2008

High frequency of submicroscopic chromosomal imbalances in patients with syndromic craniosynostosis detected by a combined approach of microsatellite segregation analysis, multiplex ligation-dependent probe amplification and array-based comparative genome hybridisationF S Jehee, A C V Krepischi-Santos, K M Rocha, et al.

Clinical Genetics|October 8, 2009

Chromosome imbalances in syndromic hearing lossA L P M Catelani, A C V Krepischi, C A Kim, et al.

Cytogenetic and Genome Research|November 25, 2006

Whole-genome array-CGH screening in undiagnosed syndromic patients: old syndromes revisited and new alterationsA C V Krepischi-Santos, A M Vianna-Morgante, F S Jehee, et al.

American Journal of Medical Genetics|April 20, 1999

Fragile X premutation is a significant risk factor for premature ovarian failure: the International Collaborative POF in Fragile X study--preliminary dataD J Allingham-Hawkins, R Babul-Hirji, D Chitayat, et al.

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Showing results (31-40 of 41) with videos related to

Sort By:

Pageof 5

British Journal of Haematology|May 31, 2001

Deletion of the factor IX gene as a result of translocation t(X;1) in a girl affected by haemophilia BA C Krepischi-Santos, J D Carneiro, M Svartman, et al.

American Journal of Medical Genetics|May 20, 1999

Fully mutated and gray-zone FRAXA alleles in Brazilian mentally retarded boysL A Haddad, M J Aguiar, S S Costa, et al.

Human Genetics|January 1, 1981

H-Y antigen expression in a case of mixed gonadal dysgenesisC A Moreira-Filho, A T Amaral, P G Otto, et al.

Molecular Syndromology|October 30, 2010

An Illustrative Case of Neurofibromatosis Type 1 and NF1 MicrodeletionL A Praxedes, F M Pereira, J F Mazzeu, et al.

Cytogenetic and Genome Research|July 21, 2009

Constitutional haploinsufficiency of tumor suppressor genes in mentally retarded patients with microdeletions in 17p13.1A C V Krepischi-Santos, D Rajan, I K Temple, et al.

Journal of Medical Genetics|June 28, 2005

Array-CGH detection of micro rearrangements in mentally retarded individuals: clinical significance of imbalances present both in affected children and normal parentsC Rosenberg, J Knijnenburg, E Bakker, et al.

Journal of Medical Genetics|May 6, 2008

High frequency of submicroscopic chromosomal imbalances in patients with syndromic craniosynostosis detected by a combined approach of microsatellite segregation analysis, multiplex ligation-dependent probe amplification and array-based comparative genome hybridisationF S Jehee, A C V Krepischi-Santos, K M Rocha, et al.

Clinical Genetics|October 8, 2009

Chromosome imbalances in syndromic hearing lossA L P M Catelani, A C V Krepischi, C A Kim, et al.

Cytogenetic and Genome Research|November 25, 2006

Whole-genome array-CGH screening in undiagnosed syndromic patients: old syndromes revisited and new alterationsA C V Krepischi-Santos, A M Vianna-Morgante, F S Jehee, et al.

American Journal of Medical Genetics|April 20, 1999

Fragile X premutation is a significant risk factor for premature ovarian failure: the International Collaborative POF in Fragile X study--preliminary dataD J Allingham-Hawkins, R Babul-Hirji, D Chitayat, et al.

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