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The British Journal of Dermatology
|
August 19, 2015
Unusual cutaneous features associated with a heterozygous gain-of-function mutation in IFIH1: overlap between Aicardi-Goutières and Singleton-Merten syndromes
A-C Bursztejn, T A Briggs, Y del Toro Duany, et al.
Journal of Medical Genetics
|
August 1, 2009
Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families
M Willems, D Geneviève, G Borck, et al.
Journal of Medical Genetics
|
May 2, 2006
Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome
W Seifert, M Holder-Espinasse, S Spranger, et al.
Prenatal Diagnosis
|
November 14, 2012
What do French patients and geneticists think about prenatal and preimplantation diagnoses in Marfan syndrome?
F Coron, T Rousseau, G Jondeau, et al.
Translational Psychiatry
|
October 25, 2012
Analysis of the chromosome X exome in patients with autism spectrum disorders identified novel candidate genes, including TMLHE
C Nava, F Lamari, D Héron, et al.
Bulletin Du Cancer
|
July 19, 2001
[Li-Fraumeni syndrome: update, new data and guidelines for clinical management]
T Frebourg, A Abel, C Bonaiti-Pellie, et al.
Journal of Medical Genetics
|
June 5, 2010
Microdeletion at chromosome 4q21 defines a new emerging syndrome with marked growth restriction, mental retardation and absent or severely delayed speech
C Bonnet, J Andrieux, M Béri-Dexheimer, et al.
European Journal of Neurology
|
June 20, 2020
Deciphering the natural history of SCA7 in children
M G Bah, D Rodriguez, C Cazeneuve, et al.
European Journal of Pediatrics
|
February 1, 2000
Manifestations and treatment of Schimke immuno-osseous dysplasia: 14 new cases and a review of the literature
C F Boerkoel, S O'Neill, J L André, et al.
Clinical Genetics
|
March 20, 2013
Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability
P Callier, B Aral, N Hanna, et al.
Page
of 9
Search research articles
Search
Showing results (71-80 of 82) with videos related to
Sort By:
Page
of 9
The British Journal of Dermatology
|
August 19, 2015
Unusual cutaneous features associated with a heterozygous gain-of-function mutation in IFIH1: overlap between Aicardi-Goutières and Singleton-Merten syndromes
A-C Bursztejn, T A Briggs, Y del Toro Duany, et al.
Journal of Medical Genetics
|
August 1, 2009
Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families
M Willems, D Geneviève, G Borck, et al.
Journal of Medical Genetics
|
May 2, 2006
Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome
W Seifert, M Holder-Espinasse, S Spranger, et al.
Prenatal Diagnosis
|
November 14, 2012
What do French patients and geneticists think about prenatal and preimplantation diagnoses in Marfan syndrome?
F Coron, T Rousseau, G Jondeau, et al.
Translational Psychiatry
|
October 25, 2012
Analysis of the chromosome X exome in patients with autism spectrum disorders identified novel candidate genes, including TMLHE
C Nava, F Lamari, D Héron, et al.
Bulletin Du Cancer
|
July 19, 2001
[Li-Fraumeni syndrome: update, new data and guidelines for clinical management]
T Frebourg, A Abel, C Bonaiti-Pellie, et al.
Journal of Medical Genetics
|
June 5, 2010
Microdeletion at chromosome 4q21 defines a new emerging syndrome with marked growth restriction, mental retardation and absent or severely delayed speech
C Bonnet, J Andrieux, M Béri-Dexheimer, et al.
European Journal of Neurology
|
June 20, 2020
Deciphering the natural history of SCA7 in children
M G Bah, D Rodriguez, C Cazeneuve, et al.
European Journal of Pediatrics
|
February 1, 2000
Manifestations and treatment of Schimke immuno-osseous dysplasia: 14 new cases and a review of the literature
C F Boerkoel, S O'Neill, J L André, et al.
Clinical Genetics
|
March 20, 2013
Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability
P Callier, B Aral, N Hanna, et al.
Page
of 9