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American Journal of Medical Genetics. Part A
|
May 19, 2009
van den Ende-Gupta syndrome: evidence for genetic heterogeneity
Gabriela F Leal, Elias O Silva
American Journal of Medical Genetics. Part A
|
October 17, 2007
Three additional cases of the Michels syndrome
Gabriela F Leal, Eduardo V P Baptista
American Journal of Medical Genetics. Part A
|
August 3, 2016
Desbuquois dysplasia type II in a patient with a homozygous mutation in XYLT1 and new unusual findings
Cynthia Silveira, Gabriela F Leal, Denise P Cavalcanti
American Journal of Medical Genetics
|
May 7, 2002
Poland anomaly with foot symbrachydactyly
Elias O Silva, Gabriela F Leal, Valentina N Carvalho
Journal of Molecular Neuroscience : MN
|
July 14, 2021
Non-lethal Raine Syndrome Report Lacking Characteristic Clinical Features
Laura D Ferreira, Gabriela F Leal, João Ricardo Mendes de Oliveira
American Journal of Medical Genetics. Part A
|
February 13, 2008
Blepharophimosis, blepharoptosis, defects of the anterior chamber of the eye, caudal appendage, radioulnar synostosis, hearing loss and umbilical anomalies in sibs: 3MC syndrome?
Gabriela F Leal, Elias O Silva, Andréa R Duarte, et al.
European Journal of Medical Genetics
|
August 17, 2019
DNA methylation fingerprint of monozygotic twins and their singleton sibling with intellectual disability carrying a novel KDM5C mutation
João V S Guerra, José Oliveira-Santos, Danyllo F Oliveira, et al.
The Cleft Palate-Craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association
|
May 9, 2014
Clinical Features in Patients With 22q11.2 Deletion Syndrome Ascertained by Palatal Abnormalities
Társis P Vieira, Fabíola P Monteiro, Ilária C Sgardioli, et al.
Nature Genetics
|
January 25, 2011
Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome
Caroline Rooryck, Anna Diaz-Font, Daniel P S Osborn, et al.
European Journal of Pediatrics
|
February 27, 2013
Defining new guidelines for screening the 22q11.2 deletion based on a clinical and dysmorphologic evaluation of 194 individuals and review of the literature
Fabíola P Monteiro, Társis P Vieira, Ilária C Sgardioli, et al.
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Search research articles
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Showing results (1-10 of 11) with videos related to
Sort By:
Page
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American Journal of Medical Genetics. Part A
|
May 19, 2009
van den Ende-Gupta syndrome: evidence for genetic heterogeneity
Gabriela F Leal, Elias O Silva
American Journal of Medical Genetics. Part A
|
October 17, 2007
Three additional cases of the Michels syndrome
Gabriela F Leal, Eduardo V P Baptista
American Journal of Medical Genetics. Part A
|
August 3, 2016
Desbuquois dysplasia type II in a patient with a homozygous mutation in XYLT1 and new unusual findings
Cynthia Silveira, Gabriela F Leal, Denise P Cavalcanti
American Journal of Medical Genetics
|
May 7, 2002
Poland anomaly with foot symbrachydactyly
Elias O Silva, Gabriela F Leal, Valentina N Carvalho
Journal of Molecular Neuroscience : MN
|
July 14, 2021
Non-lethal Raine Syndrome Report Lacking Characteristic Clinical Features
Laura D Ferreira, Gabriela F Leal, João Ricardo Mendes de Oliveira
American Journal of Medical Genetics. Part A
|
February 13, 2008
Blepharophimosis, blepharoptosis, defects of the anterior chamber of the eye, caudal appendage, radioulnar synostosis, hearing loss and umbilical anomalies in sibs: 3MC syndrome?
Gabriela F Leal, Elias O Silva, Andréa R Duarte, et al.
European Journal of Medical Genetics
|
August 17, 2019
DNA methylation fingerprint of monozygotic twins and their singleton sibling with intellectual disability carrying a novel KDM5C mutation
João V S Guerra, José Oliveira-Santos, Danyllo F Oliveira, et al.
The Cleft Palate-Craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association
|
May 9, 2014
Clinical Features in Patients With 22q11.2 Deletion Syndrome Ascertained by Palatal Abnormalities
Társis P Vieira, Fabíola P Monteiro, Ilária C Sgardioli, et al.
Nature Genetics
|
January 25, 2011
Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome
Caroline Rooryck, Anna Diaz-Font, Daniel P S Osborn, et al.
European Journal of Pediatrics
|
February 27, 2013
Defining new guidelines for screening the 22q11.2 deletion based on a clinical and dysmorphologic evaluation of 194 individuals and review of the literature
Fabíola P Monteiro, Társis P Vieira, Ilária C Sgardioli, et al.
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of 2