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American Journal of Medical Genetics. Part A
|
September 25, 2021
Correspondence on "Disorder of sex development associated with a novel homozygous nonsense mutation in COG6 expands the phenotypic spectrum of COG6-CDG"
Licia Lugli, Marzia Pollazzon, Stefania Bigoni, et al.
Fetal and Pediatric Pathology
|
September 25, 2023
Prenatal Array-CGH Detection of 3q26.32q26.33 Interstitial Deletion Encompassing the <i>SOX2</i> Gene: Ultrasound, Pathological, and Cytogenetic Findings
Maria Paola Bonasoni, Giuseppina Comitini, Mariangela Pati, et al.
Journal of Clinical Medicine
|
May 13, 2026
Phenotypic Heterogeneity in Titinopathies with Peripheral Nerve Involvement in Pediatric Age: Two Case Reports
Carlo Alberto Cesaroni, Giulia Pisanò, Massimiliano Marton, et al.
Molecular Syndromology
|
February 15, 2024
Novel Insights from Clinical Practice: Xia-Gibbs Syndrome with Pes Cavus, Conjunctival Melanosis, and Eye Asymmetry due to a de novo AHDC1 Gene Variant - A Case Report and a Brief Review of the Literature
Margherita Baga, Ivan Ivanovski, Gianluca Contrò, et al.
Neuropediatrics
|
November 14, 2024
Sensory-Motor Polyneuropathy in an 11-year- old Girl with a Pathogenic Variant in SMC1A: A Case Report
Angelica De Luisa, Carlo A Cesaroni, Marzia Pollazzon, et al.
Australasian Journal of Ultrasound in Medicine
|
July 2, 2025
Vertebral Bone Density Abnormalities in Fetal Ultrasound: A Distinctive Clinical Sign of Spondylocarpotarsal Synostosis Syndrome <i>MYH3</i>-Related
Immacolata Blasi, Marzia Pollazzon, Stefano Giuseppe Caraffi, et al.
Children (Basel, Switzerland)
|
November 27, 2025
A Boy with a Novel Variant in <i>TCF20</i>: An Expanded Phenotype and a Brief Review of the Literature
Diletta Ziveri, Carlo Alberto Cesaroni, Gianluca Contrò, et al.
Diagnostics (Basel, Switzerland)
|
November 13, 2025
Renal Hypoplasia and Oligomeganephronia in a Fetus with Wolf-Hirschhorn Syndrome
Maria Paola Bonasoni, Mariangela Pati, Khush Shah, et al.
Journal of Neurology
|
November 14, 2009
The first Italian family with tibial muscular dystrophy caused by a novel titin mutation
Marzia Pollazzon, Tiina Suominen, Sini Penttilä, et al.
Journal of Human Genetics
|
October 29, 2019
Alazami syndrome: the first case of papillary thyroid carcinoma
Ivan Ivanovski, Stefano Giuseppe Caraffi, Elisa Magnani, et al.
Page
of 5
Search research articles
Search
Showing results (11-20 of 45) with videos related to
Sort By:
Page
of 5
American Journal of Medical Genetics. Part A
|
September 25, 2021
Correspondence on "Disorder of sex development associated with a novel homozygous nonsense mutation in COG6 expands the phenotypic spectrum of COG6-CDG"
Licia Lugli, Marzia Pollazzon, Stefania Bigoni, et al.
Fetal and Pediatric Pathology
|
September 25, 2023
Prenatal Array-CGH Detection of 3q26.32q26.33 Interstitial Deletion Encompassing the <i>SOX2</i> Gene: Ultrasound, Pathological, and Cytogenetic Findings
Maria Paola Bonasoni, Giuseppina Comitini, Mariangela Pati, et al.
Journal of Clinical Medicine
|
May 13, 2026
Phenotypic Heterogeneity in Titinopathies with Peripheral Nerve Involvement in Pediatric Age: Two Case Reports
Carlo Alberto Cesaroni, Giulia Pisanò, Massimiliano Marton, et al.
Molecular Syndromology
|
February 15, 2024
Novel Insights from Clinical Practice: Xia-Gibbs Syndrome with Pes Cavus, Conjunctival Melanosis, and Eye Asymmetry due to a de novo AHDC1 Gene Variant - A Case Report and a Brief Review of the Literature
Margherita Baga, Ivan Ivanovski, Gianluca Contrò, et al.
Neuropediatrics
|
November 14, 2024
Sensory-Motor Polyneuropathy in an 11-year- old Girl with a Pathogenic Variant in SMC1A: A Case Report
Angelica De Luisa, Carlo A Cesaroni, Marzia Pollazzon, et al.
Australasian Journal of Ultrasound in Medicine
|
July 2, 2025
Vertebral Bone Density Abnormalities in Fetal Ultrasound: A Distinctive Clinical Sign of Spondylocarpotarsal Synostosis Syndrome <i>MYH3</i>-Related
Immacolata Blasi, Marzia Pollazzon, Stefano Giuseppe Caraffi, et al.
Children (Basel, Switzerland)
|
November 27, 2025
A Boy with a Novel Variant in <i>TCF20</i>: An Expanded Phenotype and a Brief Review of the Literature
Diletta Ziveri, Carlo Alberto Cesaroni, Gianluca Contrò, et al.
Diagnostics (Basel, Switzerland)
|
November 13, 2025
Renal Hypoplasia and Oligomeganephronia in a Fetus with Wolf-Hirschhorn Syndrome
Maria Paola Bonasoni, Mariangela Pati, Khush Shah, et al.
Journal of Neurology
|
November 14, 2009
The first Italian family with tibial muscular dystrophy caused by a novel titin mutation
Marzia Pollazzon, Tiina Suominen, Sini Penttilä, et al.
Journal of Human Genetics
|
October 29, 2019
Alazami syndrome: the first case of papillary thyroid carcinoma
Ivan Ivanovski, Stefano Giuseppe Caraffi, Elisa Magnani, et al.
Page
of 5