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Parkinsonism & Related Disorders
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August 19, 2020
Paroxysmal movement disorder with response to carbamazepine in a patient with RHOBTB2 developmental and epileptic encephalopathy
Carlotta Spagnoli, Luca Soliani, Stefano Giuseppe Caraffi, 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.
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.
Journal of Community Genetics
|
January 11, 2025
Clinical genetic services in the Emilia-Romagna region, Italy: current activity and open issues: a mixed-method study
Lea Godino, Enrico Ambrosini, Valeria Barili, et al.
American Journal of Medical Genetics. Part A
|
January 29, 2011
Al-Awadi-Raas-Rothschild (limb/pelvis/uterus-hypoplasia/aplasia) syndrome and WNT7A mutations: genetic homogeneity and nosological delineation
Livia Garavelli, Anita Wischmeijer, Simonetta Rosato, et al.
American Journal of Medical Genetics. Part A
|
September 28, 2021
A monoallelic SEC23A variant E599K associated with cranio-lenticulo-sutural dysplasia
Katarina Cisarova, Livia Garavelli, Stefano Giuseppe Caraffi, 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.
European Journal of Human Genetics : EJHG
|
July 9, 2004
A double cryptic chromosome imbalance is an important factor to explain phenotypic variability in Wolf-Hirschhorn syndrome
Marcella Zollino, Rosetta Lecce, Angelo Selicorni, et al.
Genes
|
September 28, 2023
Diprosopus: A Rare Case of Craniofacial Duplication and a Systematic Review of the Literature
Viola Trevisani, Eleonora Balestri, Manuela Napoli, 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.
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of 16
Search research articles
Search
Showing results (41-50 of 156) with videos related to
Sort By:
Page
of 16
Parkinsonism & Related Disorders
|
August 19, 2020
Paroxysmal movement disorder with response to carbamazepine in a patient with RHOBTB2 developmental and epileptic encephalopathy
Carlotta Spagnoli, Luca Soliani, Stefano Giuseppe Caraffi, 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.
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.
Journal of Community Genetics
|
January 11, 2025
Clinical genetic services in the Emilia-Romagna region, Italy: current activity and open issues: a mixed-method study
Lea Godino, Enrico Ambrosini, Valeria Barili, et al.
American Journal of Medical Genetics. Part A
|
January 29, 2011
Al-Awadi-Raas-Rothschild (limb/pelvis/uterus-hypoplasia/aplasia) syndrome and WNT7A mutations: genetic homogeneity and nosological delineation
Livia Garavelli, Anita Wischmeijer, Simonetta Rosato, et al.
American Journal of Medical Genetics. Part A
|
September 28, 2021
A monoallelic SEC23A variant E599K associated with cranio-lenticulo-sutural dysplasia
Katarina Cisarova, Livia Garavelli, Stefano Giuseppe Caraffi, 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.
European Journal of Human Genetics : EJHG
|
July 9, 2004
A double cryptic chromosome imbalance is an important factor to explain phenotypic variability in Wolf-Hirschhorn syndrome
Marcella Zollino, Rosetta Lecce, Angelo Selicorni, et al.
Genes
|
September 28, 2023
Diprosopus: A Rare Case of Craniofacial Duplication and a Systematic Review of the Literature
Viola Trevisani, Eleonora Balestri, Manuela Napoli, 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.
Page
of 16