Search research articles
Contact Us
Filters
Showing results (31-40 of 45) with videos related to
Page
of 5
Sort By:
Genes
|
February 25, 2022
Clinical and Molecular Diagnosis of Osteocraniostenosis in Fetuses and Newborns: Prenatal Ultrasound, Clinical, Radiological and Pathological Features
Simonetta Rosato, Sheila Unger, Belinda Campos-Xavier, 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
|
January 21, 2022
Clinical and Genetic Findings in a Series of Eight Families with Arthrogryposis
Marzia Pollazzon, Stefano Giuseppe Caraffi, Silvia Faccioli, 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.
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.
Genes
|
August 27, 2021
Posterior Lissencephaly Associated with Subcortical Band Heterotopia Due to a Variation in the <i>CEP85L</i> Gene: A Case Report and Refining of the Phenotypic Spectrum
Gianluca Contrò, Alessia Micalizzi, Sara Giangiobbe, et al.
Italian Journal of Pediatrics
|
December 24, 2025
3-M syndrome: evolution of the phenotype over time
Isabelle Bacchi, Sara Vandelli, Emanuele Coccia, et al.
American Journal of Medical Genetics. Part A
|
April 8, 2015
Noonan syndrome-like disorder with loose anagen hair: a second case with neuroblastoma
Livia Garavelli, Viviana Cordeddu, Stefania Errico, et al.
American Journal of Medical Genetics. Part A
|
October 12, 2020
Expanding the phenotype of Wiedemann-Steiner syndrome: Craniovertebral junction anomalies
Sara Giangiobbe, Stefano Giuseppe Caraffi, Ivan Ivanovski, et al.
Page
of 5
Search research articles
Search
Showing results (31-40 of 45) with videos related to
Sort By:
Page
of 5
Genes
|
February 25, 2022
Clinical and Molecular Diagnosis of Osteocraniostenosis in Fetuses and Newborns: Prenatal Ultrasound, Clinical, Radiological and Pathological Features
Simonetta Rosato, Sheila Unger, Belinda Campos-Xavier, 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
|
January 21, 2022
Clinical and Genetic Findings in a Series of Eight Families with Arthrogryposis
Marzia Pollazzon, Stefano Giuseppe Caraffi, Silvia Faccioli, 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.
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.
Genes
|
August 27, 2021
Posterior Lissencephaly Associated with Subcortical Band Heterotopia Due to a Variation in the <i>CEP85L</i> Gene: A Case Report and Refining of the Phenotypic Spectrum
Gianluca Contrò, Alessia Micalizzi, Sara Giangiobbe, et al.
Italian Journal of Pediatrics
|
December 24, 2025
3-M syndrome: evolution of the phenotype over time
Isabelle Bacchi, Sara Vandelli, Emanuele Coccia, et al.
American Journal of Medical Genetics. Part A
|
April 8, 2015
Noonan syndrome-like disorder with loose anagen hair: a second case with neuroblastoma
Livia Garavelli, Viviana Cordeddu, Stefania Errico, et al.
American Journal of Medical Genetics. Part A
|
October 12, 2020
Expanding the phenotype of Wiedemann-Steiner syndrome: Craniovertebral junction anomalies
Sara Giangiobbe, Stefano Giuseppe Caraffi, Ivan Ivanovski, et al.
Page
of 5