Search research articles
Contact Us
Filters
Showing results (1-10 of 25) with videos related to
Page
of 3
Sort By:
Gene
|
August 31, 2015
De novo double reciprocal translocations in addition to partial monosomy at another chromosome: A very rare case
Milena Simioni, Carlos Eduardo Steiner, Vera Lúcia Gil-da-Silva-Lopes
Journal of Developmental and Behavioral Pediatrics : JDBP
|
August 12, 2015
8p23.1 Interstitial Deletion in a Patient with Congenital Cardiopathy, Neurobehavioral Disorders, and Minor Signs Suggesting 22q11.2 Deletion Syndrome
Miriam C Molck, Fabíola P Monteiro, Milena Simioni, et al.
Molecular Syndromology
|
June 8, 2017
A New Case of the Rare 10q22.3q23.2 Microdeletion Flanked by Low-Copy Repeats 3/4
Miriam Coelho Molck, Milena Simioni, Társis Paiva Vieira, et al.
Molecular Syndromology
|
August 25, 2018
A Pure 2-Mb 3q26.2 Duplication Proximal to the Critical Region of 3q Duplication Syndrome
Miriam Coelho Molck, Milena Simioni, Társis Paiva Vieira, et al.
Journal of Pediatric Genetics
|
September 13, 2016
22q11.2 Deletion Syndrome: Laboratory Diagnosis and TBX1 and FGF8 Mutation Screening
Ilária C Sgardioli, Társis P Vieira, Milena Simioni, et al.
Journal of Human Genetics
|
November 14, 2014
Investigation of genetic factors underlying typical orofacial clefts: mutational screening and copy number variation
Milena Simioni, Tânia Kawasaki Araujo, Isabella Lopes Monlleo, et al.
Gene
|
April 10, 2013
A new case of partial 14q31.3-qter trisomy due to maternal pericentric inversion
Ilária Cristina Sgardioli, Milena Simioni, Nilma Lúcia Viguetti-Campos, et al.
Gene
|
October 4, 2012
Partial monosomy 21 (q11.2→q21.3) combined with 3p25.3→pter monosomy due to an unbalanced translocation in a patient presenting dysmorphic features and developmental delay
Ana Paula dos Santos, Társis Paiva Vieira, Milena Simioni, et al.
Genetics and Molecular Biology
|
March 24, 2016
Tetrasomy 3q26.32-q29 due to a supernumerary marker chromosome in a child with pigmentary mosaicism of Ito
Karina S Cunha, Milena Simioni, Tarsis P Vieira, et al.
American Journal of Medical Genetics. Part A
|
November 1, 2014
Distal 22q11.2 microduplication combined with typical 22q11.2 proximal deletion: a case report
Miriam Coelho Molck, Társis Paiva Vieira, Milena Simioni, et al.
Page
of 3
Search research articles
Search
Showing results (1-10 of 25) with videos related to
Sort By:
Page
of 3
Gene
|
August 31, 2015
De novo double reciprocal translocations in addition to partial monosomy at another chromosome: A very rare case
Milena Simioni, Carlos Eduardo Steiner, Vera Lúcia Gil-da-Silva-Lopes
Journal of Developmental and Behavioral Pediatrics : JDBP
|
August 12, 2015
8p23.1 Interstitial Deletion in a Patient with Congenital Cardiopathy, Neurobehavioral Disorders, and Minor Signs Suggesting 22q11.2 Deletion Syndrome
Miriam C Molck, Fabíola P Monteiro, Milena Simioni, et al.
Molecular Syndromology
|
June 8, 2017
A New Case of the Rare 10q22.3q23.2 Microdeletion Flanked by Low-Copy Repeats 3/4
Miriam Coelho Molck, Milena Simioni, Társis Paiva Vieira, et al.
Molecular Syndromology
|
August 25, 2018
A Pure 2-Mb 3q26.2 Duplication Proximal to the Critical Region of 3q Duplication Syndrome
Miriam Coelho Molck, Milena Simioni, Társis Paiva Vieira, et al.
Journal of Pediatric Genetics
|
September 13, 2016
22q11.2 Deletion Syndrome: Laboratory Diagnosis and TBX1 and FGF8 Mutation Screening
Ilária C Sgardioli, Társis P Vieira, Milena Simioni, et al.
Journal of Human Genetics
|
November 14, 2014
Investigation of genetic factors underlying typical orofacial clefts: mutational screening and copy number variation
Milena Simioni, Tânia Kawasaki Araujo, Isabella Lopes Monlleo, et al.
Gene
|
April 10, 2013
A new case of partial 14q31.3-qter trisomy due to maternal pericentric inversion
Ilária Cristina Sgardioli, Milena Simioni, Nilma Lúcia Viguetti-Campos, et al.
Gene
|
October 4, 2012
Partial monosomy 21 (q11.2→q21.3) combined with 3p25.3→pter monosomy due to an unbalanced translocation in a patient presenting dysmorphic features and developmental delay
Ana Paula dos Santos, Társis Paiva Vieira, Milena Simioni, et al.
Genetics and Molecular Biology
|
March 24, 2016
Tetrasomy 3q26.32-q29 due to a supernumerary marker chromosome in a child with pigmentary mosaicism of Ito
Karina S Cunha, Milena Simioni, Tarsis P Vieira, et al.
American Journal of Medical Genetics. Part A
|
November 1, 2014
Distal 22q11.2 microduplication combined with typical 22q11.2 proximal deletion: a case report
Miriam Coelho Molck, Társis Paiva Vieira, Milena Simioni, et al.
Page
of 3