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Hormone Research in Paediatrics
|
July 12, 2014
Ten-year longitudinal study of thyroid function in children with Down's syndrome
Lorenzo Iughetti, Barbara Predieri, Patrizia Bruzzi, et al.
American Journal of Medical Genetics. Part A
|
June 10, 2016
RIN2 syndrome: Expanding the clinical phenotype
Simonetta Rosato, Delfien Syx, Ivan Ivanovski, et al.
Clinical Dysmorphology
|
March 2, 2018
Complex cranio-vertebral malformation: disruption sequence or iniencephaly?
Marzia Pollazzon, Simonetta Rosato, Ivan Ivanovski, et al.
American Journal of Medical Genetics. Part A
|
September 3, 2020
Severe intellectual disability, absence of language, epilepsy, microcephaly and progressive cerebellar atrophy related to the recurrent de novo variant p.(P139L) of the CAMK2B gene: A case report and brief review
Susanna Rizzi, Carlotta Spagnoli, Grazia Gabriella Salerno, et al.
Plos One
|
February 4, 2014
Incontinentia pigmenti: learning disabilities are a fundamental hallmark of the disease
Maria Rosa Pizzamiglio, Laura Piccardi, Filippo Bianchini, et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques
|
December 16, 2024
A Novel Variant in the <i>SUOX</i> Gene in the Oldest Individual with Late-Onset Isolated Sulfite Oxidase Deficiency
Susanna Rizzi, Carlo Alberto Cesaroni, Carlotta Spagnoli, et al.
Journal of the Neurological Sciences
|
May 8, 2010
Novel mutations in the L1CAM gene support the complexity of L1 syndrome
Cinzia Bertolin, Francesca Boaretto, Giovanni Barbon, et al.
Applied Neuropsychology. Child
|
June 9, 2016
Cognitive-behavioural phenotype in a group of girls from 1.2 to 12 years old with the Incontinentia Pigmenti syndrome: Recommendations for clinical management
Maria Rosa Pizzamiglio, Laura Piccardi, Filippo Bianchini, et al.
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.
Biomedicines
|
March 29, 2023
The Enigmatic Genetic Landscape of Hereditary Hearing Loss: A Multistep Diagnostic Strategy in the Italian Population
Beatrice Spedicati, Aurora Santin, Giuseppe Giovanni Nardone, et al.
Page
of 16
Search research articles
Search
Showing results (31-40 of 156) with videos related to
Sort By:
Page
of 16
Hormone Research in Paediatrics
|
July 12, 2014
Ten-year longitudinal study of thyroid function in children with Down's syndrome
Lorenzo Iughetti, Barbara Predieri, Patrizia Bruzzi, et al.
American Journal of Medical Genetics. Part A
|
June 10, 2016
RIN2 syndrome: Expanding the clinical phenotype
Simonetta Rosato, Delfien Syx, Ivan Ivanovski, et al.
Clinical Dysmorphology
|
March 2, 2018
Complex cranio-vertebral malformation: disruption sequence or iniencephaly?
Marzia Pollazzon, Simonetta Rosato, Ivan Ivanovski, et al.
American Journal of Medical Genetics. Part A
|
September 3, 2020
Severe intellectual disability, absence of language, epilepsy, microcephaly and progressive cerebellar atrophy related to the recurrent de novo variant p.(P139L) of the CAMK2B gene: A case report and brief review
Susanna Rizzi, Carlotta Spagnoli, Grazia Gabriella Salerno, et al.
Plos One
|
February 4, 2014
Incontinentia pigmenti: learning disabilities are a fundamental hallmark of the disease
Maria Rosa Pizzamiglio, Laura Piccardi, Filippo Bianchini, et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques
|
December 16, 2024
A Novel Variant in the <i>SUOX</i> Gene in the Oldest Individual with Late-Onset Isolated Sulfite Oxidase Deficiency
Susanna Rizzi, Carlo Alberto Cesaroni, Carlotta Spagnoli, et al.
Journal of the Neurological Sciences
|
May 8, 2010
Novel mutations in the L1CAM gene support the complexity of L1 syndrome
Cinzia Bertolin, Francesca Boaretto, Giovanni Barbon, et al.
Applied Neuropsychology. Child
|
June 9, 2016
Cognitive-behavioural phenotype in a group of girls from 1.2 to 12 years old with the Incontinentia Pigmenti syndrome: Recommendations for clinical management
Maria Rosa Pizzamiglio, Laura Piccardi, Filippo Bianchini, et al.
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.
Biomedicines
|
March 29, 2023
The Enigmatic Genetic Landscape of Hereditary Hearing Loss: A Multistep Diagnostic Strategy in the Italian Population
Beatrice Spedicati, Aurora Santin, Giuseppe Giovanni Nardone, et al.
Page
of 16