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Dermatology (Basel, Switzerland)
|
August 1, 2013
Long-term follow-up and molecular characterization of a patient with a RECQL4 mutation spectrum disorder
M Fradin, C Merklen-Djafri, C Perrigouard, et al.
Clinical Genetics
|
February 26, 2013
Clinical and genetic characterization of Bardet-Biedl syndrome in Tunisia: defining a strategy for molecular diagnosis
O M'hamdi, C Redin, C Stoetzel, et al.
Ophthalmic Genetics
|
November 12, 2010
A novel nonsense B3GALTL mutation confirms Peters plus syndrome in a patient with multiple malformations and Peters anomaly
K Aliferis, C Marsal, V Pelletier, et al.
Journal of Medical Genetics
|
November 5, 2002
Linkage to 18qter differentiates two clinically overlapping syndromes: congenital cataracts-facial dysmorphism-neuropathy (CCFDN) syndrome and Marinesco-Sjögren syndrome
C Lagier-Tourenne, D Chaigne, J Gong, et al.
Clinical Genetics
|
April 2, 2014
Olfaction evaluation and correlation with brain atrophy in Bardet-Biedl syndrome
J-J Braun, V Noblet, M Durand, et al.
Ophthalmic Genetics
|
February 10, 2010
Confirmation of ADAMTSL4 mutations for autosomal recessive isolated bilateral ectopia lentis
V Bennouna Greene, C Stoetzel, V Pelletier, et al.
Nature Genetics
|
November 1, 1993
A gene for Stargardt's disease (fundus flavimaculatus) maps to the short arm of chromosome 1
J Kaplan, S Gerber, D Larget-Piet, et al.
Human Mutation
|
April 11, 2001
Mutation analysis of the tyrosinase gene in oculocutaneous albinism
O Camand, D Marchant, S Boutboul, et al.
American Journal of Medical Genetics. Part A
|
September 19, 2009
Confirmation of TFAP2A gene involvement in branchio-oculo-facial syndrome (BOFS) and report of temporal bone anomalies
C Stoetzel, S Riehm, V Bennouna Greene, et al.
Clinical Genetics
|
September 10, 2010
Osteosclerotic bone dysplasia in siblings with a Fam20C mutation
Melanie Fradin, C Stoetzel, J Muller, et al.
Page
of 8
Search research articles
Search
Showing results (41-50 of 72) with videos related to
Sort By:
Page
of 8
Dermatology (Basel, Switzerland)
|
August 1, 2013
Long-term follow-up and molecular characterization of a patient with a RECQL4 mutation spectrum disorder
M Fradin, C Merklen-Djafri, C Perrigouard, et al.
Clinical Genetics
|
February 26, 2013
Clinical and genetic characterization of Bardet-Biedl syndrome in Tunisia: defining a strategy for molecular diagnosis
O M'hamdi, C Redin, C Stoetzel, et al.
Ophthalmic Genetics
|
November 12, 2010
A novel nonsense B3GALTL mutation confirms Peters plus syndrome in a patient with multiple malformations and Peters anomaly
K Aliferis, C Marsal, V Pelletier, et al.
Journal of Medical Genetics
|
November 5, 2002
Linkage to 18qter differentiates two clinically overlapping syndromes: congenital cataracts-facial dysmorphism-neuropathy (CCFDN) syndrome and Marinesco-Sjögren syndrome
C Lagier-Tourenne, D Chaigne, J Gong, et al.
Clinical Genetics
|
April 2, 2014
Olfaction evaluation and correlation with brain atrophy in Bardet-Biedl syndrome
J-J Braun, V Noblet, M Durand, et al.
Ophthalmic Genetics
|
February 10, 2010
Confirmation of ADAMTSL4 mutations for autosomal recessive isolated bilateral ectopia lentis
V Bennouna Greene, C Stoetzel, V Pelletier, et al.
Nature Genetics
|
November 1, 1993
A gene for Stargardt's disease (fundus flavimaculatus) maps to the short arm of chromosome 1
J Kaplan, S Gerber, D Larget-Piet, et al.
Human Mutation
|
April 11, 2001
Mutation analysis of the tyrosinase gene in oculocutaneous albinism
O Camand, D Marchant, S Boutboul, et al.
American Journal of Medical Genetics. Part A
|
September 19, 2009
Confirmation of TFAP2A gene involvement in branchio-oculo-facial syndrome (BOFS) and report of temporal bone anomalies
C Stoetzel, S Riehm, V Bennouna Greene, et al.
Clinical Genetics
|
September 10, 2010
Osteosclerotic bone dysplasia in siblings with a Fam20C mutation
Melanie Fradin, C Stoetzel, J Muller, et al.
Page
of 8