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European Journal of Medical Genetics
|
March 24, 2009
14q12 Microdeletion syndrome and congenital variant of Rett syndrome
Maria Antonietta Mencarelli, Tjitske Kleefstra, Eleni Katzaki, et al.
American Journal of Medical Genetics. Part A
|
June 26, 2010
Syndromic mental retardation with thrombocytopenia due to 21q22.11q22.12 deletion: Report of three patients
Eleni Katzaki, Gilles Morin, Marzia Pollazzon, et al.
European Journal of Medical Genetics
|
March 12, 2010
3.2 Mb microdeletion in chromosome 7 bands q22.2-q22.3 associated with overgrowth and delayed bone age
Vera Uliana, Salvatore Grosso, Maddalena Cioni, et al.
American Journal of Medical Genetics. Part A
|
October 31, 2007
MECP2 deletions and genotype-phenotype correlation in Rett syndrome
Elisa Scala, Ilaria Longo, Federica Ottimo, et al.
American Journal of Medical Genetics. Part A
|
July 16, 2008
A 3 Mb deletion in 14q12 causes severe mental retardation, mild facial dysmorphisms and Rett-like features
Filomena Tiziana Papa, Maria Antonietta Mencarelli, Rossella Caselli, et al.
European Journal of Medical Genetics
|
July 29, 2008
Private inherited microdeletion/microduplications: implications in clinical practice
Maria Antonietta Mencarelli, Eleni Katzaki, Filomena Tiziana Papa, et al.
American Journal of Medical Genetics. Part A
|
July 26, 2008
Cohen syndrome resulting from a novel large intragenic COH1 deletion segregating in an isolated Greek island population
Marianna Bugiani, Yolanda Gyftodimou, Paraskevi Tsimpouka, et al.
Journal of Human Genetics
|
February 12, 2020
Erratum to: Clinical and molecular characterization of Italian patients affected by Cohen syndrome
Eleni Katzaki, Chiara Pescucci, Vera Uliana, et al.
Journal of Human Genetics
|
November 9, 2007
Clinical and molecular characterization of Italian patients affected by Cohen syndrome
Eleni Katzaki, Chiara Pescucci, Vera Uliana, et al.
Cancer Science
|
February 3, 2009
Array comparative genomic hybridization in retinoma and retinoblastoma tissues
Katia Sampieri, Mariangela Amenduni, Filomena Tiziana Papa, et al.
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of 2
Search research articles
Search
Showing results (1-10 of 11) with videos related to
Sort By:
Page
of 2
European Journal of Medical Genetics
|
March 24, 2009
14q12 Microdeletion syndrome and congenital variant of Rett syndrome
Maria Antonietta Mencarelli, Tjitske Kleefstra, Eleni Katzaki, et al.
American Journal of Medical Genetics. Part A
|
June 26, 2010
Syndromic mental retardation with thrombocytopenia due to 21q22.11q22.12 deletion: Report of three patients
Eleni Katzaki, Gilles Morin, Marzia Pollazzon, et al.
European Journal of Medical Genetics
|
March 12, 2010
3.2 Mb microdeletion in chromosome 7 bands q22.2-q22.3 associated with overgrowth and delayed bone age
Vera Uliana, Salvatore Grosso, Maddalena Cioni, et al.
American Journal of Medical Genetics. Part A
|
October 31, 2007
MECP2 deletions and genotype-phenotype correlation in Rett syndrome
Elisa Scala, Ilaria Longo, Federica Ottimo, et al.
American Journal of Medical Genetics. Part A
|
July 16, 2008
A 3 Mb deletion in 14q12 causes severe mental retardation, mild facial dysmorphisms and Rett-like features
Filomena Tiziana Papa, Maria Antonietta Mencarelli, Rossella Caselli, et al.
European Journal of Medical Genetics
|
July 29, 2008
Private inherited microdeletion/microduplications: implications in clinical practice
Maria Antonietta Mencarelli, Eleni Katzaki, Filomena Tiziana Papa, et al.
American Journal of Medical Genetics. Part A
|
July 26, 2008
Cohen syndrome resulting from a novel large intragenic COH1 deletion segregating in an isolated Greek island population
Marianna Bugiani, Yolanda Gyftodimou, Paraskevi Tsimpouka, et al.
Journal of Human Genetics
|
February 12, 2020
Erratum to: Clinical and molecular characterization of Italian patients affected by Cohen syndrome
Eleni Katzaki, Chiara Pescucci, Vera Uliana, et al.
Journal of Human Genetics
|
November 9, 2007
Clinical and molecular characterization of Italian patients affected by Cohen syndrome
Eleni Katzaki, Chiara Pescucci, Vera Uliana, et al.
Cancer Science
|
February 3, 2009
Array comparative genomic hybridization in retinoma and retinoblastoma tissues
Katia Sampieri, Mariangela Amenduni, Filomena Tiziana Papa, et al.
Page
of 2