Search research articles
Contact Us
Filters
Showing results (11-20 of 18) with videos related to
Page
of 2
Sort By:
You have reached the last page of results.
This site can display upto 18 results.
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.
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.
Journal of Medical Genetics
|
June 14, 2008
New SMS mutation leads to a striking reduction in spermine synthase protein function and a severe form of Snyder-Robinson X-linked recessive mental retardation syndrome
G de Alencastro, D E McCloskey, S E Kliemann, et al.
Revista Do Hospital Das Clinicas
|
April 21, 2001
Clinical and laboratorial study of 19 cases of mucopolysaccharidoses
L M Albano, S S Sugayama, D R Bertola, 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.
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.
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.
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.
Page
of 2
Search research articles
Search
Showing results (11-20 of 18) with videos related to
Sort By:
Page
of 2
You have reached the last page of results.
This site can display upto 18 results.
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.
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.
Journal of Medical Genetics
|
June 14, 2008
New SMS mutation leads to a striking reduction in spermine synthase protein function and a severe form of Snyder-Robinson X-linked recessive mental retardation syndrome
G de Alencastro, D E McCloskey, S E Kliemann, et al.
Revista Do Hospital Das Clinicas
|
April 21, 2001
Clinical and laboratorial study of 19 cases of mucopolysaccharidoses
L M Albano, S S Sugayama, D R Bertola, 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.
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.
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.
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.
Page
of 2