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American Journal of Medical Genetics. Part A
|
July 5, 2016
A novel 5q11.2 microdeletion in a child with mild developmental delay and dysmorphic features
Paolo Fontana, Cristina Tortora, Roberta Petillo, et al.
The Journal of Clinical Endocrinology and Metabolism
|
February 7, 2004
Acromegalic axial arthropathy: a clinical case-control study
Raffaele Scarpa, Davide De Brasi, Rosario Pivonello, et al.
American Journal of Medical Genetics. Part A
|
November 4, 2004
KBG syndrome in a cohort of Italian patients
Francesco Brancati, Maria Gabriella D'Avanzo, Maria Cristina Digilio, et al.
European Journal of Medical Genetics
|
January 24, 2017
Brachydactyly type E in an Italian family with 6p25 trisomy
Paolo Fontana, Cristina Tortora, Roberta Petillo, et al.
Endocrine, Metabolic & Immune Disorders Drug Targets
|
February 27, 2023
A New <i>de novo</i> Mosaic Mutation of PHEX Gene: A Case Report of a Boy with Hypophosphatemic Rickets
Alessandra Terracciano, Margherita Lucia De Bernardi, Roberto Novizio, et al.
European Journal of Dermatology : EJD
|
April 30, 2011
Molecular characterization of 11 Italian patients with Darier disease
Lucia Pedace, Luana Barboni, Erika Pozzetto, et al.
Endocrine
|
July 26, 2015
Flavor perception test: evaluation in patients with Kallmann syndrome
Luigi Maione, Elena Cantone, Immacolata Cristina Nettore, et al.
Gene
|
December 25, 2012
20 novel point mutations and one large deletion in EXT1 and EXT2 genes: report of diagnostic screening in a large Italian cohort of patients affected by hereditary multiple exostosis
Michele Ciavarella, Michelina Coco, Filomena Baorda, et al.
Page
of 1
Search research articles
Search
Showing results (1-10 of 8) with videos related to
Sort By:
Page
of 1
American Journal of Medical Genetics. Part A
|
July 5, 2016
A novel 5q11.2 microdeletion in a child with mild developmental delay and dysmorphic features
Paolo Fontana, Cristina Tortora, Roberta Petillo, et al.
The Journal of Clinical Endocrinology and Metabolism
|
February 7, 2004
Acromegalic axial arthropathy: a clinical case-control study
Raffaele Scarpa, Davide De Brasi, Rosario Pivonello, et al.
American Journal of Medical Genetics. Part A
|
November 4, 2004
KBG syndrome in a cohort of Italian patients
Francesco Brancati, Maria Gabriella D'Avanzo, Maria Cristina Digilio, et al.
European Journal of Medical Genetics
|
January 24, 2017
Brachydactyly type E in an Italian family with 6p25 trisomy
Paolo Fontana, Cristina Tortora, Roberta Petillo, et al.
Endocrine, Metabolic & Immune Disorders Drug Targets
|
February 27, 2023
A New <i>de novo</i> Mosaic Mutation of PHEX Gene: A Case Report of a Boy with Hypophosphatemic Rickets
Alessandra Terracciano, Margherita Lucia De Bernardi, Roberto Novizio, et al.
European Journal of Dermatology : EJD
|
April 30, 2011
Molecular characterization of 11 Italian patients with Darier disease
Lucia Pedace, Luana Barboni, Erika Pozzetto, et al.
Endocrine
|
July 26, 2015
Flavor perception test: evaluation in patients with Kallmann syndrome
Luigi Maione, Elena Cantone, Immacolata Cristina Nettore, et al.
Gene
|
December 25, 2012
20 novel point mutations and one large deletion in EXT1 and EXT2 genes: report of diagnostic screening in a large Italian cohort of patients affected by hereditary multiple exostosis
Michele Ciavarella, Michelina Coco, Filomena Baorda, et al.
Page
of 1