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Clinical Endocrinology
|
January 28, 2009
Functional analysis of two rare CYP21A2 mutations detected in Italian patients with a mildest form of congenital adrenal hyperplasia
Paola Concolino, Francesca Vendittelli, Enrica Mello, et al.
Cytogenetic and Genome Research
|
May 30, 2019
A 46,XY Female with a 9p24.3p24.1 Deletion and a 8q24.11q24.3 Duplication: A Case Report and Review of the Literature
Valentina Bruni, Katia Roppa, Francesca Scionti, et al.
Aging Clinical and Experimental Research
|
June 8, 2018
Werner syndrome: a rare mutation
Alberto Castagna, Pietro Gareri, Francesca Falvo, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
October 9, 2008
GSTM1-null polymorphism as possible risk marker for hypertension: results from the aging and longevity study in the Sirente Geographic Area (ilSIRENTE study)
Ettore Capoluongo, Graziano Onder, Paola Concolino, et al.
Revista De Gastroenterologia De Mexico (English)
|
April 7, 2018
Overlap between functional abdominal pain disorders and organic diseases in children
A H Langshaw, J M Rosen, L Pensabene, et al.
Pediatric Blood & Cancer
|
March 31, 2015
Co-inheritance of G6PD and PK deficiencies in a neonate carrying a Novel UGT1A1 genotype associated to Crigler-Najjar type II syndrome
Angelo Minucci, Antonio Ruggiero, Giulia Canu, et al.
Molecular Genetics and Metabolism
|
August 17, 2014
Long term effects of enzyme replacement therapy in an Italian cohort of type 3 Gaucher patients
Annalisa Sechi, Laura Deroma, Andrea Dardis, et al.
Molecular Diagnosis & Therapy
|
February 6, 2017
High Resolution Melting Analysis is Very Useful to Identify BRCA1 c.4964_4982del19 (rs80359876) Founder Calabrian Pathogenic Variant on Peripheral Blood and Buccal Swab DNA
Angelo Minucci, Maria De Bonis, Elisa De Paolis, et al.
Clinical Biochemistry
|
October 14, 2018
Additional molecular and clinical evidence open the way to definitive IARC classification of the BRCA1 c.5332G > A (p.Asp1778Asn) variant
Angelo Minucci, Maurizio Lalle, Rossella De Leo, et al.
Neurology
|
November 11, 2009
Congenital muscular dystrophy with defective alpha-dystroglycan, cerebellar hypoplasia, and epilepsy
S Messina, G Tortorella, D Concolino, et al.
Page
of 35
Search research articles
Search
Showing results (171-180 of 347) with videos related to
Sort By:
Page
of 35
Clinical Endocrinology
|
January 28, 2009
Functional analysis of two rare CYP21A2 mutations detected in Italian patients with a mildest form of congenital adrenal hyperplasia
Paola Concolino, Francesca Vendittelli, Enrica Mello, et al.
Cytogenetic and Genome Research
|
May 30, 2019
A 46,XY Female with a 9p24.3p24.1 Deletion and a 8q24.11q24.3 Duplication: A Case Report and Review of the Literature
Valentina Bruni, Katia Roppa, Francesca Scionti, et al.
Aging Clinical and Experimental Research
|
June 8, 2018
Werner syndrome: a rare mutation
Alberto Castagna, Pietro Gareri, Francesca Falvo, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
October 9, 2008
GSTM1-null polymorphism as possible risk marker for hypertension: results from the aging and longevity study in the Sirente Geographic Area (ilSIRENTE study)
Ettore Capoluongo, Graziano Onder, Paola Concolino, et al.
Revista De Gastroenterologia De Mexico (English)
|
April 7, 2018
Overlap between functional abdominal pain disorders and organic diseases in children
A H Langshaw, J M Rosen, L Pensabene, et al.
Pediatric Blood & Cancer
|
March 31, 2015
Co-inheritance of G6PD and PK deficiencies in a neonate carrying a Novel UGT1A1 genotype associated to Crigler-Najjar type II syndrome
Angelo Minucci, Antonio Ruggiero, Giulia Canu, et al.
Molecular Genetics and Metabolism
|
August 17, 2014
Long term effects of enzyme replacement therapy in an Italian cohort of type 3 Gaucher patients
Annalisa Sechi, Laura Deroma, Andrea Dardis, et al.
Molecular Diagnosis & Therapy
|
February 6, 2017
High Resolution Melting Analysis is Very Useful to Identify BRCA1 c.4964_4982del19 (rs80359876) Founder Calabrian Pathogenic Variant on Peripheral Blood and Buccal Swab DNA
Angelo Minucci, Maria De Bonis, Elisa De Paolis, et al.
Clinical Biochemistry
|
October 14, 2018
Additional molecular and clinical evidence open the way to definitive IARC classification of the BRCA1 c.5332G > A (p.Asp1778Asn) variant
Angelo Minucci, Maurizio Lalle, Rossella De Leo, et al.
Neurology
|
November 11, 2009
Congenital muscular dystrophy with defective alpha-dystroglycan, cerebellar hypoplasia, and epilepsy
S Messina, G Tortorella, D Concolino, et al.
Page
of 35