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The New England Journal of Medicine
|
February 28, 2014
PRKACB and Carney complex
Antonella Forlino, Annalisa Vetro, Livia Garavelli, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM
|
October 28, 2021
Growth hormone deficiency in a child with benign hereditary chorea caused by a <i>de novo</i> mutation of the TITF1/NKX2-1 gene
Viola Trevisani, Barbara Predieri, Simona Filomena Madeo, et al.
International Journal of Health Geographics
|
February 12, 2009
Risk of congenital anomalies around a municipal solid waste incinerator: a GIS-based case-control study
Marco Vinceti, Carlotta Malagoli, Sara Fabbi, et al.
Neuropediatrics
|
November 21, 2015
Xp11.22 Microduplications Including HUWE1: Case Report and Literature Review
Sonia Orivoli, Elena Pavlidis, Gaetano Cantalupo, et al.
Genes
|
July 2, 2021
Neurological Phenotype of Mowat-Wilson Syndrome
Duccio Maria Cordelli, Veronica Di Pisa, Anna Fetta, et al.
Genes
|
June 2, 2021
Variable Expressivity of the Beckwith-Wiedemann Syndrome in Four Pedigrees Segregating Loss-of-Function Variants of <i>CDKN1C</i>
Angela Sparago, Flavia Cerrato, Laura Pignata, et al.
American Journal of Medical Genetics. Part A
|
April 23, 2004
Solitary median maxillary central incisor syndrome: clinical case with a novel mutation of sonic hedgehog
Livia Garavelli, C Zanacca, G Caselli, et al.
Acta Bio-Medica : Atenei Parmensis
|
August 25, 2005
Albright's hereditary osteodystrophy (pseudohypoparathyroidism type Ia): clinical case with a novel mutation of GNAS1
Livia Garavelli, S Pedori, C Zanacca, et al.
Genes
|
April 23, 2022
MCPH1: A Novel Case Report and a Review of the Literature
Stefano Giuseppe Caraffi, Marzia Pollazzon, Muhammad Farooq, et al.
Genes
|
July 2, 2021
Clinical Manifestations in a Girl with NAA10-Related Syndrome and Genotype-Phenotype Correlation in Females
Ilenia Maini, Stefano G Caraffi, Francesca Peluso, et al.
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of 16
Search research articles
Search
Showing results (11-20 of 156) with videos related to
Sort By:
Page
of 16
The New England Journal of Medicine
|
February 28, 2014
PRKACB and Carney complex
Antonella Forlino, Annalisa Vetro, Livia Garavelli, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM
|
October 28, 2021
Growth hormone deficiency in a child with benign hereditary chorea caused by a <i>de novo</i> mutation of the TITF1/NKX2-1 gene
Viola Trevisani, Barbara Predieri, Simona Filomena Madeo, et al.
International Journal of Health Geographics
|
February 12, 2009
Risk of congenital anomalies around a municipal solid waste incinerator: a GIS-based case-control study
Marco Vinceti, Carlotta Malagoli, Sara Fabbi, et al.
Neuropediatrics
|
November 21, 2015
Xp11.22 Microduplications Including HUWE1: Case Report and Literature Review
Sonia Orivoli, Elena Pavlidis, Gaetano Cantalupo, et al.
Genes
|
July 2, 2021
Neurological Phenotype of Mowat-Wilson Syndrome
Duccio Maria Cordelli, Veronica Di Pisa, Anna Fetta, et al.
Genes
|
June 2, 2021
Variable Expressivity of the Beckwith-Wiedemann Syndrome in Four Pedigrees Segregating Loss-of-Function Variants of <i>CDKN1C</i>
Angela Sparago, Flavia Cerrato, Laura Pignata, et al.
American Journal of Medical Genetics. Part A
|
April 23, 2004
Solitary median maxillary central incisor syndrome: clinical case with a novel mutation of sonic hedgehog
Livia Garavelli, C Zanacca, G Caselli, et al.
Acta Bio-Medica : Atenei Parmensis
|
August 25, 2005
Albright's hereditary osteodystrophy (pseudohypoparathyroidism type Ia): clinical case with a novel mutation of GNAS1
Livia Garavelli, S Pedori, C Zanacca, et al.
Genes
|
April 23, 2022
MCPH1: A Novel Case Report and a Review of the Literature
Stefano Giuseppe Caraffi, Marzia Pollazzon, Muhammad Farooq, et al.
Genes
|
July 2, 2021
Clinical Manifestations in a Girl with NAA10-Related Syndrome and Genotype-Phenotype Correlation in Females
Ilenia Maini, Stefano G Caraffi, Francesca Peluso, et al.
Page
of 16