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January 20, 2015
Syndromic intellectual disability: a new phenotype caused by an aromatic amino acid decarboxylase gene (DDC) variant
Claudio Graziano, Anita Wischmeijer, Tommaso Pippucci, et al.
Genes
|
July 2, 2021
Adducted Thumb and Peripheral Polyneuropathy: Diagnostic Supports in Suspecting White-Sutton Syndrome: Case Report and Review of the Literature
Gabriele Trimarchi, Stefano Giuseppe Caraffi, Francesca Clementina Radio, et al.
Genes
|
August 26, 2023
Split Hand-Foot and Deafness in a Patient with 7q21.13-q21.3 Deletion Not Including the <i>DLX5/6</i> Genes
Irene Ambrosetti, Laura Bernardini, Marzia Pollazzon, et al.
Genes, Chromosomes & Cancer
|
August 24, 2021
Recurrent NF1 gene variants and their genotype/phenotype correlations in patients with Neurofibromatosis type I
Matteo Riva, Davide Martorana, Vera Uliana, et al.
The Journal of Chemical Physics
|
February 8, 2023
Electron and ion spectroscopy of azobenzene in the valence and core shells
L Carlini, F Montorsi, Y Wu, et al.
Nucleic Acids Research
|
December 11, 1999
The protein information resource (PIR)
W C Barker, J S Garavelli, H Huang, et al.
American Journal of Medical Genetics. Part A
|
September 19, 2009
Mandibuloacral dysplasia type A in childhood
L Garavelli, M R D'Apice, F Rivieri, et al.
Molecular Syndromology
|
December 7, 2016
Endocrinological Abnormalities Are a Main Feature of 17p13.1 Microduplication Syndrome: A New Case and Literature Review
Ilenia Maini, Ivan Ivanovski, Alessandro Iodice, et al.
American Journal of Medical Genetics. Part A
|
November 6, 2025
Genotypes and Phenotypes of Patients With TSPEAR-Related Disorder: Evidence of a Predominant Dental Phenotype
Debora Vergani, Lucia Tiberi, Annarita Giliberti, et al.
Birth Defects Research
|
June 18, 2022
Genotype-phenotype spectrum and correlations in Xia-Gibbs syndrome: Report of five novel cases and literature review
Ferruccio Romano, Mariateresa Falco, Gerarda Cappuccio, et al.
Page
of 61
Search research articles
Search
Showing results (511-520 of 609) with videos related to
Sort By:
Page
of 61
Gene
|
January 20, 2015
Syndromic intellectual disability: a new phenotype caused by an aromatic amino acid decarboxylase gene (DDC) variant
Claudio Graziano, Anita Wischmeijer, Tommaso Pippucci, et al.
Genes
|
July 2, 2021
Adducted Thumb and Peripheral Polyneuropathy: Diagnostic Supports in Suspecting White-Sutton Syndrome: Case Report and Review of the Literature
Gabriele Trimarchi, Stefano Giuseppe Caraffi, Francesca Clementina Radio, et al.
Genes
|
August 26, 2023
Split Hand-Foot and Deafness in a Patient with 7q21.13-q21.3 Deletion Not Including the <i>DLX5/6</i> Genes
Irene Ambrosetti, Laura Bernardini, Marzia Pollazzon, et al.
Genes, Chromosomes & Cancer
|
August 24, 2021
Recurrent NF1 gene variants and their genotype/phenotype correlations in patients with Neurofibromatosis type I
Matteo Riva, Davide Martorana, Vera Uliana, et al.
The Journal of Chemical Physics
|
February 8, 2023
Electron and ion spectroscopy of azobenzene in the valence and core shells
L Carlini, F Montorsi, Y Wu, et al.
Nucleic Acids Research
|
December 11, 1999
The protein information resource (PIR)
W C Barker, J S Garavelli, H Huang, et al.
American Journal of Medical Genetics. Part A
|
September 19, 2009
Mandibuloacral dysplasia type A in childhood
L Garavelli, M R D'Apice, F Rivieri, et al.
Molecular Syndromology
|
December 7, 2016
Endocrinological Abnormalities Are a Main Feature of 17p13.1 Microduplication Syndrome: A New Case and Literature Review
Ilenia Maini, Ivan Ivanovski, Alessandro Iodice, et al.
American Journal of Medical Genetics. Part A
|
November 6, 2025
Genotypes and Phenotypes of Patients With TSPEAR-Related Disorder: Evidence of a Predominant Dental Phenotype
Debora Vergani, Lucia Tiberi, Annarita Giliberti, et al.
Birth Defects Research
|
June 18, 2022
Genotype-phenotype spectrum and correlations in Xia-Gibbs syndrome: Report of five novel cases and literature review
Ferruccio Romano, Mariateresa Falco, Gerarda Cappuccio, et al.
Page
of 61