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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 hybridisation
F S Jehee, A C V Krepischi-Santos, K M Rocha, et al.
Clinical Genetics
|
October 8, 2009
Chromosome imbalances in syndromic hearing loss
A L P M Catelani, A C V Krepischi, C A Kim, et al.
Current Oncology (Toronto, Ont.)
|
August 17, 2018
Report from the 19th annual Western Canadian Gastrointestinal Cancer Consensus Conference; Winnipeg, Manitoba; 29-30 September 2017
C A Kim, S Ahmed, S Ahmed, et al.
Journal of Molecular Medicine (Berlin, Germany)
|
August 23, 2000
Mutations of the gene encoding the transmembrane transporter protein ABC-C6 cause pseudoxanthoma elasticum
B Struk, L Cai, S Zäch, et al.
Cytogenetic and Genome Research
|
November 25, 2006
Whole-genome array-CGH screening in undiagnosed syndromic patients: old syndromes revisited and new alterations
A C V Krepischi-Santos, A M Vianna-Morgante, F S Jehee, et al.
Current Oncology (Toronto, Ont.)
|
January 4, 2020
Report from the 20th annual Western Canadian Gastrointestinal Cancer Consensus Conference; Saskatoon, Saskatchewan; 28-29 September 2018
D M Le, S Ahmed, S Ahmed, et al.
Scientific Reports
|
September 8, 2018
A Multicentric Brazilian Investigative Study of Copy Number Variations in Patients with Congenital Anomalies and Intellectual Disability
J R M Ceroni, R L Dutra, R S Honjo, et al.
Nature Genetics
|
November 5, 1999
CACP, encoding a secreted proteoglycan, is mutated in camptodactyly-arthropathy-coxa vara-pericarditis syndrome
J Marcelino, J D Carpten, W M Suwairi, et al.
Clinical Genetics
|
August 25, 2004
Clinical and biochemical study of 28 patients with mucopolysaccharidosis type VI
A C M M Azevedo, I V Schwartz, L Kalakun, et al.
Journal of Inherited Metabolic Disease
|
October 13, 2009
Clinical and biochemical studies in mucopolysaccharidosis type II carriers
I V D Schwartz, L L C Pinto, G Breda, et al.
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of 6
Search research articles
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Showing results (41-50 of 51) with videos related to
Sort By:
Page
of 6
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 hybridisation
F S Jehee, A C V Krepischi-Santos, K M Rocha, et al.
Clinical Genetics
|
October 8, 2009
Chromosome imbalances in syndromic hearing loss
A L P M Catelani, A C V Krepischi, C A Kim, et al.
Current Oncology (Toronto, Ont.)
|
August 17, 2018
Report from the 19th annual Western Canadian Gastrointestinal Cancer Consensus Conference; Winnipeg, Manitoba; 29-30 September 2017
C A Kim, S Ahmed, S Ahmed, et al.
Journal of Molecular Medicine (Berlin, Germany)
|
August 23, 2000
Mutations of the gene encoding the transmembrane transporter protein ABC-C6 cause pseudoxanthoma elasticum
B Struk, L Cai, S Zäch, et al.
Cytogenetic and Genome Research
|
November 25, 2006
Whole-genome array-CGH screening in undiagnosed syndromic patients: old syndromes revisited and new alterations
A C V Krepischi-Santos, A M Vianna-Morgante, F S Jehee, et al.
Current Oncology (Toronto, Ont.)
|
January 4, 2020
Report from the 20th annual Western Canadian Gastrointestinal Cancer Consensus Conference; Saskatoon, Saskatchewan; 28-29 September 2018
D M Le, S Ahmed, S Ahmed, et al.
Scientific Reports
|
September 8, 2018
A Multicentric Brazilian Investigative Study of Copy Number Variations in Patients with Congenital Anomalies and Intellectual Disability
J R M Ceroni, R L Dutra, R S Honjo, et al.
Nature Genetics
|
November 5, 1999
CACP, encoding a secreted proteoglycan, is mutated in camptodactyly-arthropathy-coxa vara-pericarditis syndrome
J Marcelino, J D Carpten, W M Suwairi, et al.
Clinical Genetics
|
August 25, 2004
Clinical and biochemical study of 28 patients with mucopolysaccharidosis type VI
A C M M Azevedo, I V Schwartz, L Kalakun, et al.
Journal of Inherited Metabolic Disease
|
October 13, 2009
Clinical and biochemical studies in mucopolysaccharidosis type II carriers
I V D Schwartz, L L C Pinto, G Breda, et al.
Page
of 6