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Journal of Medical Genetics
|
April 6, 2001
Use of a set of highly polymorphic minisatellite probes for the identification of cryptic 1p36.3 deletions in a large collection of patients with idiopathic mental retardation
F Giraudeau, L Taine, V Biancalana, et al.
Physical Review Letters
|
April 22, 2014
Reference-frame-independent quantum-key-distribution server with a telecom tether for an on-chip client
P Zhang, K Aungskunsiri, E Martín-López, et al.
Journal of Medical Genetics
|
February 9, 2007
New VMD2 gene mutations identified in patients affected by Best vitelliform macular dystrophy
D Marchant, K Yu, K Bigot, et al.
Neurology
|
March 17, 2000
Homogeneous phenotype of the gypsy limb-girdle MD with the gamma-sarcoglycan C283Y mutation
L Merlini, J C Kaplan, C Navarro, et al.
Journal of Medical Genetics
|
July 14, 2009
MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations
N Le Meur, M Holder-Espinasse, S Jaillard, et al.
Nature Genetics
|
February 15, 2001
The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome
L Crisponi, M Deiana, A Loi, et al.
Human Molecular Genetics
|
April 4, 2001
Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2)
D Y Nishimura, C C Searby, R Carmi, et al.
Human Genetics
|
February 24, 2010
Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease
Jean Muller, C Stoetzel, M C Vincent, et al.
Human Mutation
|
June 15, 2007
Molecular heterogeneity in fetal forms of type II lissencephaly
C Bouchet, M Gonzales, S Vuillaumier-Barrot, et al.
Journal of Dental Research
|
June 16, 2012
Dental abnormalities in Schimke immuno-osseous dysplasia
M Morimoto, O Kérourédan, M Gendronneau, et al.
Page
of 15
Search research articles
Search
Showing results (131-140 of 143) with videos related to
Sort By:
Page
of 15
Journal of Medical Genetics
|
April 6, 2001
Use of a set of highly polymorphic minisatellite probes for the identification of cryptic 1p36.3 deletions in a large collection of patients with idiopathic mental retardation
F Giraudeau, L Taine, V Biancalana, et al.
Physical Review Letters
|
April 22, 2014
Reference-frame-independent quantum-key-distribution server with a telecom tether for an on-chip client
P Zhang, K Aungskunsiri, E Martín-López, et al.
Journal of Medical Genetics
|
February 9, 2007
New VMD2 gene mutations identified in patients affected by Best vitelliform macular dystrophy
D Marchant, K Yu, K Bigot, et al.
Neurology
|
March 17, 2000
Homogeneous phenotype of the gypsy limb-girdle MD with the gamma-sarcoglycan C283Y mutation
L Merlini, J C Kaplan, C Navarro, et al.
Journal of Medical Genetics
|
July 14, 2009
MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations
N Le Meur, M Holder-Espinasse, S Jaillard, et al.
Nature Genetics
|
February 15, 2001
The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome
L Crisponi, M Deiana, A Loi, et al.
Human Molecular Genetics
|
April 4, 2001
Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2)
D Y Nishimura, C C Searby, R Carmi, et al.
Human Genetics
|
February 24, 2010
Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease
Jean Muller, C Stoetzel, M C Vincent, et al.
Human Mutation
|
June 15, 2007
Molecular heterogeneity in fetal forms of type II lissencephaly
C Bouchet, M Gonzales, S Vuillaumier-Barrot, et al.
Journal of Dental Research
|
June 16, 2012
Dental abnormalities in Schimke immuno-osseous dysplasia
M Morimoto, O Kérourédan, M Gendronneau, et al.
Page
of 15