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Orphanet Journal of Rare Diseases
|
July 10, 2010
Joubert Syndrome and related disorders
Francesco Brancati, Bruno Dallapiccola, Enza Maria Valente
Orphanet Journal of Rare Diseases
|
May 29, 2008
Leopard syndrome
Anna Sarkozy, Maria Cristina Digilio, Bruno Dallapiccola
The Lancet. Neurology
|
November 15, 2008
Genetic testing for paediatric neurological disorders
Enza Maria Valente, Alessandro Ferraris, Bruno Dallapiccola
American Journal of Medical Genetics. Part A
|
May 14, 2011
The difficult nosology of blepharophimosis-mental retardation syndromes: report on two siblings
Maria Lisa Dentici, Rita Mingarelli, Bruno Dallapiccola
American Journal of Medical Genetics
|
September 5, 2002
Primary hypothyroidism and osteopenia associated with Neuhauser syndrome
Anna Sarkozy, Rita Mingarelli, Francesco Brancati, et al.
American Journal of Medical Genetics. Part A
|
February 14, 2009
Phenocopy of Wolf-Hirschhorn syndrome in a patient with duplication 12q13.3q14.1
Bruno Dallapiccola, Laura Bernardini, Antonio Novelli, et al.
American Journal of Medical Genetics. Part A
|
April 23, 2004
Ablepharon-macrostomia syndrome in a 46-year-old woman
Francesco Brancati, Rita Mingarelli, Anna Sarkozy, et al.
European Journal of Human Genetics : EJHG
|
June 26, 2002
Guidelines for the appropriate use of genetic tests in infertile couples
Carlo Foresta, Alberto Ferlin, Luca Gianaroli, et al.
American Journal of Medical Genetics. Part A
|
November 19, 2009
Expanding the phenotype of duplication of the Rubinstein-Taybi region on 16p13.3
Bruno Dallapiccola, Laura Bernardini, Antonio Novelli, et al.
European Journal of Medical Genetics
|
August 17, 2010
Azoospermia in a man with a constitutional ring 22 chromosome
Daniela Zuccarello, Bruno Dallapiccola, Antonio Novelli, et al.
Page
of 46
Search research articles
Search
Showing results (21-30 of 454) with videos related to
Sort By:
Page
of 46
Orphanet Journal of Rare Diseases
|
July 10, 2010
Joubert Syndrome and related disorders
Francesco Brancati, Bruno Dallapiccola, Enza Maria Valente
Orphanet Journal of Rare Diseases
|
May 29, 2008
Leopard syndrome
Anna Sarkozy, Maria Cristina Digilio, Bruno Dallapiccola
The Lancet. Neurology
|
November 15, 2008
Genetic testing for paediatric neurological disorders
Enza Maria Valente, Alessandro Ferraris, Bruno Dallapiccola
American Journal of Medical Genetics. Part A
|
May 14, 2011
The difficult nosology of blepharophimosis-mental retardation syndromes: report on two siblings
Maria Lisa Dentici, Rita Mingarelli, Bruno Dallapiccola
American Journal of Medical Genetics
|
September 5, 2002
Primary hypothyroidism and osteopenia associated with Neuhauser syndrome
Anna Sarkozy, Rita Mingarelli, Francesco Brancati, et al.
American Journal of Medical Genetics. Part A
|
February 14, 2009
Phenocopy of Wolf-Hirschhorn syndrome in a patient with duplication 12q13.3q14.1
Bruno Dallapiccola, Laura Bernardini, Antonio Novelli, et al.
American Journal of Medical Genetics. Part A
|
April 23, 2004
Ablepharon-macrostomia syndrome in a 46-year-old woman
Francesco Brancati, Rita Mingarelli, Anna Sarkozy, et al.
European Journal of Human Genetics : EJHG
|
June 26, 2002
Guidelines for the appropriate use of genetic tests in infertile couples
Carlo Foresta, Alberto Ferlin, Luca Gianaroli, et al.
American Journal of Medical Genetics. Part A
|
November 19, 2009
Expanding the phenotype of duplication of the Rubinstein-Taybi region on 16p13.3
Bruno Dallapiccola, Laura Bernardini, Antonio Novelli, et al.
European Journal of Medical Genetics
|
August 17, 2010
Azoospermia in a man with a constitutional ring 22 chromosome
Daniela Zuccarello, Bruno Dallapiccola, Antonio Novelli, et al.
Page
of 46