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Neurology
|
November 10, 2020
Teaching NeuroImages: Trigeminal Ganglia Hypoplasia as Imaging Clue for the Diagnosis of Gómez-López-Hernández Syndrome
Eduardo Perrone, Stênio Burlin, Vânia D'Almeida, et al.
Cytogenetic and Genome Research
|
March 15, 2022
Minimal Critical Region and Genes for a Typical Presentation of Langer-Giedion Syndrome
Bianca Pereira Favilla, Bruna Burssed, Érika Mitie Yamashiro Coelho, et al.
American Journal of Medical Genetics. Part A
|
February 13, 2013
Obesity with associated developmental delay and/or learning disability in patients exhibiting additional features: report of novel pathogenic copy number variants
Carla Sustek D'Angelo, Ilana Kohl, Monica Castro Varela, et al.
Neuromuscular Disorders : NMD
|
March 5, 2013
Spinal muscular atrophy due to a "de novo" 1.3 Mb deletion: implication for genetic counseling
Luciana Rodrigues Jacy da Silva, Mileny Esbravatti Stephano Colovati, Bruno Coprerski, et al.
BMC Medical Genetics
|
December 21, 2014
Duplication 9p and their implication to phenotype
Roberta Santos Guilherme, Vera Ayres Meloni, Ana Beatriz Alvarez Perez, et al.
American Journal of Medical Genetics. Part A
|
April 18, 2020
Gomez-López-Hernández syndrome: A case report with clinical and molecular evaluation and literature review
Eduardo Perrone, Vânia D'Almeida, Nara Lygia de Macena Sobreira, et al.
Molecular Cytogenetics
|
February 15, 2018
Chromosomal microarray analysis in the genetic evaluation of 279 patients with syndromic obesity
Carla Sustek D'Angelo, Monica Castro Varela, Claudia Irene Emílio de Castro, et al.
Journal of Neurodevelopmental Disorders
|
July 20, 2019
A Brazilian cohort of individuals with Phelan-McDermid syndrome: genotype-phenotype correlation and identification of an atypical case
Claudia Ismania Samogy-Costa, Elisa Varella-Branco, Frederico Monfardini, et al.
American Journal of Medical Genetics. Part A
|
December 31, 2020
Clinical and molecular evaluation of 13 Brazilian patients with Gomez-López-Hernández syndrome
Eduardo Perrone, Ana Beatriz Alvarez Perez, Vânia D'Almeida, et al.
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Search research articles
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Showing results (21-30 of 29) with videos related to
Sort By:
Page
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You have reached the last page of results.
This site can display upto 29 results.
Neurology
|
November 10, 2020
Teaching NeuroImages: Trigeminal Ganglia Hypoplasia as Imaging Clue for the Diagnosis of Gómez-López-Hernández Syndrome
Eduardo Perrone, Stênio Burlin, Vânia D'Almeida, et al.
Cytogenetic and Genome Research
|
March 15, 2022
Minimal Critical Region and Genes for a Typical Presentation of Langer-Giedion Syndrome
Bianca Pereira Favilla, Bruna Burssed, Érika Mitie Yamashiro Coelho, et al.
American Journal of Medical Genetics. Part A
|
February 13, 2013
Obesity with associated developmental delay and/or learning disability in patients exhibiting additional features: report of novel pathogenic copy number variants
Carla Sustek D'Angelo, Ilana Kohl, Monica Castro Varela, et al.
Neuromuscular Disorders : NMD
|
March 5, 2013
Spinal muscular atrophy due to a "de novo" 1.3 Mb deletion: implication for genetic counseling
Luciana Rodrigues Jacy da Silva, Mileny Esbravatti Stephano Colovati, Bruno Coprerski, et al.
BMC Medical Genetics
|
December 21, 2014
Duplication 9p and their implication to phenotype
Roberta Santos Guilherme, Vera Ayres Meloni, Ana Beatriz Alvarez Perez, et al.
American Journal of Medical Genetics. Part A
|
April 18, 2020
Gomez-López-Hernández syndrome: A case report with clinical and molecular evaluation and literature review
Eduardo Perrone, Vânia D'Almeida, Nara Lygia de Macena Sobreira, et al.
Molecular Cytogenetics
|
February 15, 2018
Chromosomal microarray analysis in the genetic evaluation of 279 patients with syndromic obesity
Carla Sustek D'Angelo, Monica Castro Varela, Claudia Irene Emílio de Castro, et al.
Journal of Neurodevelopmental Disorders
|
July 20, 2019
A Brazilian cohort of individuals with Phelan-McDermid syndrome: genotype-phenotype correlation and identification of an atypical case
Claudia Ismania Samogy-Costa, Elisa Varella-Branco, Frederico Monfardini, et al.
American Journal of Medical Genetics. Part A
|
December 31, 2020
Clinical and molecular evaluation of 13 Brazilian patients with Gomez-López-Hernández syndrome
Eduardo Perrone, Ana Beatriz Alvarez Perez, Vânia D'Almeida, et al.
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