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Journal of Medical Genetics
|
May 19, 2001
Clinical and cytogenetic characterisation of a patient with Down syndrome resulting from a 21q22.1-->qter duplication
M Nadal, C G Vigo, M I Melaragno, et al.
American Journal of Medical Genetics. Part A
|
May 16, 2003
Absence of 12q21.2q22 deletions and subtelomeric rearrangements in cardiofaciocutaneous (CFC) syndrome patients
M I Kavamura, M Zollino, R Lecce, et al.
Journal of Pediatric Ophthalmology and Strabismus
|
June 2, 2001
Ocular and clinical manifestations of Möbius' syndrome
M F Cronemberger, J B de Castro Moreira, D Brunoni, et al.
American Journal of Medical Genetics
|
July 24, 1998
Description of a new mutation and characterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses
M R Passos-Bueno, A L Sertié, A Richieri-Costa, et al.
European Journal of Human Genetics : EJHG
|
January 17, 2003
PTPN11 mutations are not responsible for the Cardiofaciocutaneous (CFC) syndrome
M I Kavamura, M G Pomponi, M Zollino, et al.
Journal of Intellectual Disability Research : JIDR
|
September 3, 2010
Subtelomeric rearrangements and copy number variations in people with intellectual disabilities
D M Christofolini, M A de Paula Ramos, L D Kulikowski, et al.
Human Mutation
|
October 3, 2000
High mutation detection rate in TCOF1 among Treacher Collins syndrome patients reveals clustering of mutations and 16 novel pathogenic changes
A Splendore, E O Silva, L G Alonso, et al.
American Journal of Medical Genetics
|
November 1, 1989
Chromosome abnormalities in selected newborn infants with malformations in Brazil
C L Borovik, D Brunoni, A E Sato, et al.
Reproductive Toxicology (Elmsford, N.Y.)
|
April 23, 1999
Pregnancy outcome after exposure to misoprostol in Brazil: a prospective, controlled study
L Schüler, A Pastuszak, T V Sanseverino, et al.
Genetics and Molecular Research : GMR
|
March 4, 2010
Ring chromosome instability evaluation in six patients with autosomal rings
C P Sodré, R S Guilherme, V F A Meloni, et al.
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of 4
Search research articles
Search
Showing results (21-30 of 37) with videos related to
Sort By:
Page
of 4
Journal of Medical Genetics
|
May 19, 2001
Clinical and cytogenetic characterisation of a patient with Down syndrome resulting from a 21q22.1-->qter duplication
M Nadal, C G Vigo, M I Melaragno, et al.
American Journal of Medical Genetics. Part A
|
May 16, 2003
Absence of 12q21.2q22 deletions and subtelomeric rearrangements in cardiofaciocutaneous (CFC) syndrome patients
M I Kavamura, M Zollino, R Lecce, et al.
Journal of Pediatric Ophthalmology and Strabismus
|
June 2, 2001
Ocular and clinical manifestations of Möbius' syndrome
M F Cronemberger, J B de Castro Moreira, D Brunoni, et al.
American Journal of Medical Genetics
|
July 24, 1998
Description of a new mutation and characterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses
M R Passos-Bueno, A L Sertié, A Richieri-Costa, et al.
European Journal of Human Genetics : EJHG
|
January 17, 2003
PTPN11 mutations are not responsible for the Cardiofaciocutaneous (CFC) syndrome
M I Kavamura, M G Pomponi, M Zollino, et al.
Journal of Intellectual Disability Research : JIDR
|
September 3, 2010
Subtelomeric rearrangements and copy number variations in people with intellectual disabilities
D M Christofolini, M A de Paula Ramos, L D Kulikowski, et al.
Human Mutation
|
October 3, 2000
High mutation detection rate in TCOF1 among Treacher Collins syndrome patients reveals clustering of mutations and 16 novel pathogenic changes
A Splendore, E O Silva, L G Alonso, et al.
American Journal of Medical Genetics
|
November 1, 1989
Chromosome abnormalities in selected newborn infants with malformations in Brazil
C L Borovik, D Brunoni, A E Sato, et al.
Reproductive Toxicology (Elmsford, N.Y.)
|
April 23, 1999
Pregnancy outcome after exposure to misoprostol in Brazil: a prospective, controlled study
L Schüler, A Pastuszak, T V Sanseverino, et al.
Genetics and Molecular Research : GMR
|
March 4, 2010
Ring chromosome instability evaluation in six patients with autosomal rings
C P Sodré, R S Guilherme, V F A Meloni, et al.
Page
of 4