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European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
January 29, 2013
Array-CGH revealed one of the smallest 16q21q22.1 microdeletions in a female patient with psychomotor retardation
Eirini Tsoutsou, Maria Tzetis, Krinio Giannikou, et al.
Menopause (New York, N.Y.)
|
May 20, 2015
A novel FOXL2 gene mutation and BMP15 variants in a woman with primary ovarian insufficiency and blepharophimosis-ptosis-epicanthus inversus syndrome
Nikolaos Settas, Margarita Anapliotou, Emmanuel Kanavakis, et al.
Pediatric Research
|
March 14, 2013
Array comparative genomic hybridization as a clinical diagnostic tool in syndromic and nonsyndromic congenital heart disease
Areti Syrmou, Maria Tzetis, Helen Fryssira, et al.
Child Neuropsychology : a Journal on Normal and Abnormal Development in Childhood and Adolescence
|
January 14, 2011
Nonverbal communication, play, and language in Greek young children with Williams syndrome
Christina F Papaeliou, Helen Fryssira, Anastassios Kodakos, et al.
Pediatric Research
|
March 19, 2005
Clinical manifestations and molecular investigation of 50 patients with Williams syndrome in the Greek population
Stella Amenta, Christalena Sofocleous, Angeliki Kolialexi, et al.
American Journal of Medical Genetics. Part A
|
September 18, 2009
Cranioectodermal dysplasia: a probable ciliopathy
Anastasia E Konstantinidou, Helen Fryssira, Stavros Sifakis, et al.
European Journal of Medical Genetics
|
September 24, 2009
Refining the locus of branchio-otic syndrome 2 (BOS2) to a 5.25 Mb locus on chromosome 1q31.3q32.1
Bernard Thienpont, Eftychia Dimitriadou, Katerina Theodoropoulos, et al.
Journal of the Neurological Sciences
|
October 12, 2018
Phenotypic expression of a spectrum of Neurofibromatosis Type 1 (NF1) mutations identified through NGS and MLPA
Maria Tsipi, Myrto Poulou, Irene Fylaktou, et al.
Neuroscience Letters
|
January 29, 2013
COMT and MTHFR polymorphisms interaction on cognition in schizophrenia: an exploratory study
Dimitrios Kontis, Eirini Theochari, Helen Fryssira, et al.
BMC Medical Genetics
|
May 7, 2015
A novel large deletion of the ICR1 region including H19 and putative enhancer elements
Helen Fryssira, Stella Amenta, Deniz Kanber, et al.
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Search research articles
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Showing results (21-30 of 43) with videos related to
Sort By:
Page
of 5
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
January 29, 2013
Array-CGH revealed one of the smallest 16q21q22.1 microdeletions in a female patient with psychomotor retardation
Eirini Tsoutsou, Maria Tzetis, Krinio Giannikou, et al.
Menopause (New York, N.Y.)
|
May 20, 2015
A novel FOXL2 gene mutation and BMP15 variants in a woman with primary ovarian insufficiency and blepharophimosis-ptosis-epicanthus inversus syndrome
Nikolaos Settas, Margarita Anapliotou, Emmanuel Kanavakis, et al.
Pediatric Research
|
March 14, 2013
Array comparative genomic hybridization as a clinical diagnostic tool in syndromic and nonsyndromic congenital heart disease
Areti Syrmou, Maria Tzetis, Helen Fryssira, et al.
Child Neuropsychology : a Journal on Normal and Abnormal Development in Childhood and Adolescence
|
January 14, 2011
Nonverbal communication, play, and language in Greek young children with Williams syndrome
Christina F Papaeliou, Helen Fryssira, Anastassios Kodakos, et al.
Pediatric Research
|
March 19, 2005
Clinical manifestations and molecular investigation of 50 patients with Williams syndrome in the Greek population
Stella Amenta, Christalena Sofocleous, Angeliki Kolialexi, et al.
American Journal of Medical Genetics. Part A
|
September 18, 2009
Cranioectodermal dysplasia: a probable ciliopathy
Anastasia E Konstantinidou, Helen Fryssira, Stavros Sifakis, et al.
European Journal of Medical Genetics
|
September 24, 2009
Refining the locus of branchio-otic syndrome 2 (BOS2) to a 5.25 Mb locus on chromosome 1q31.3q32.1
Bernard Thienpont, Eftychia Dimitriadou, Katerina Theodoropoulos, et al.
Journal of the Neurological Sciences
|
October 12, 2018
Phenotypic expression of a spectrum of Neurofibromatosis Type 1 (NF1) mutations identified through NGS and MLPA
Maria Tsipi, Myrto Poulou, Irene Fylaktou, et al.
Neuroscience Letters
|
January 29, 2013
COMT and MTHFR polymorphisms interaction on cognition in schizophrenia: an exploratory study
Dimitrios Kontis, Eirini Theochari, Helen Fryssira, et al.
BMC Medical Genetics
|
May 7, 2015
A novel large deletion of the ICR1 region including H19 and putative enhancer elements
Helen Fryssira, Stella Amenta, Deniz Kanber, et al.
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of 5