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American Journal of Medical Genetics. Part A
|
February 8, 2023
Phenotypic heterogeneity in 22q11.2 deletion syndrome: Copy Number Variants as genetic modifiers for congenital heart disease in a Brazilian cohort
M Zamariolli, A G Dantas, N Nunes, et al.
American Journal of Medical Genetics
|
February 13, 2001
Are Noonan syndrome and Noonan-like/multiple giant cell lesion syndrome distinct entities?
D R Bertola, C A Kim, A C Pereira, et al.
Molecular Genetics and Metabolism Reports
|
June 27, 2017
Exome sequencing for mucolipidosis III: Detection of a novel <i>GNPTAB</i> gene mutation in a patient with a very mild phenotype
F Sperb-Ludwig, T Alegra, R V Velho, et al.
JIMD Reports
|
February 23, 2013
Report of a Large Brazilian Family With a Very Attenuated Form of Hunter Syndrome (MPS II)
C R D C Quaio, H Grinberg, M L C Vieira, et al.
Clinical Genetics
|
September 6, 2013
Nager syndrome: confirmation of SF3B4 haploinsufficiency as the major cause
F Petit, F Escande, A S Jourdain, et al.
Journal of Inherited Metabolic Disease
|
January 26, 2006
Mucopolysaccharidosis type VI: Identification of novel mutations on the arylsulphatase B gene in South American patients
M F G Petry, K Nonemacher, J C Sebben, et al.
American Journal of Medical Genetics
|
August 1, 1993
Limb deficiency with or without Möbius sequence in seven Brazilian children associated with misoprostol use in the first trimester of pregnancy
C H Gonzalez, F R Vargas, A B Perez, et al.
Clinical Genetics
|
November 8, 2017
Richieri-Costa-Pereira syndrome: Expanding its phenotypic and genotypic spectrum
D R Bertola, G Hsia, L Alvizi, et al.
The Journal of Clinical Endocrinology and Metabolism
|
January 24, 2008
Association of a homozygous nonsense caveolin-1 mutation with Berardinelli-Seip congenital lipodystrophy
C A Kim, Marc Delépine, Emilie Boutet, et al.
Gene
|
April 10, 2013
Mucolipidosis II and III alpha/beta in Brazil: analysis of the GNPTAB gene
G K Cury, U Matte, O Artigalás, et al.
Page
of 6
Search research articles
Search
Showing results (31-40 of 51) with videos related to
Sort By:
Page
of 6
American Journal of Medical Genetics. Part A
|
February 8, 2023
Phenotypic heterogeneity in 22q11.2 deletion syndrome: Copy Number Variants as genetic modifiers for congenital heart disease in a Brazilian cohort
M Zamariolli, A G Dantas, N Nunes, et al.
American Journal of Medical Genetics
|
February 13, 2001
Are Noonan syndrome and Noonan-like/multiple giant cell lesion syndrome distinct entities?
D R Bertola, C A Kim, A C Pereira, et al.
Molecular Genetics and Metabolism Reports
|
June 27, 2017
Exome sequencing for mucolipidosis III: Detection of a novel <i>GNPTAB</i> gene mutation in a patient with a very mild phenotype
F Sperb-Ludwig, T Alegra, R V Velho, et al.
JIMD Reports
|
February 23, 2013
Report of a Large Brazilian Family With a Very Attenuated Form of Hunter Syndrome (MPS II)
C R D C Quaio, H Grinberg, M L C Vieira, et al.
Clinical Genetics
|
September 6, 2013
Nager syndrome: confirmation of SF3B4 haploinsufficiency as the major cause
F Petit, F Escande, A S Jourdain, et al.
Journal of Inherited Metabolic Disease
|
January 26, 2006
Mucopolysaccharidosis type VI: Identification of novel mutations on the arylsulphatase B gene in South American patients
M F G Petry, K Nonemacher, J C Sebben, et al.
American Journal of Medical Genetics
|
August 1, 1993
Limb deficiency with or without Möbius sequence in seven Brazilian children associated with misoprostol use in the first trimester of pregnancy
C H Gonzalez, F R Vargas, A B Perez, et al.
Clinical Genetics
|
November 8, 2017
Richieri-Costa-Pereira syndrome: Expanding its phenotypic and genotypic spectrum
D R Bertola, G Hsia, L Alvizi, et al.
The Journal of Clinical Endocrinology and Metabolism
|
January 24, 2008
Association of a homozygous nonsense caveolin-1 mutation with Berardinelli-Seip congenital lipodystrophy
C A Kim, Marc Delépine, Emilie Boutet, et al.
Gene
|
April 10, 2013
Mucolipidosis II and III alpha/beta in Brazil: analysis of the GNPTAB gene
G K Cury, U Matte, O Artigalás, et al.
Page
of 6