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Clinical Genetics
|
December 1, 1996
Increased paternal age in CHARGE association
A L Tellier, S Lyonnet, V Cormier-Daire, et al.
American Journal of Human Genetics
|
April 14, 2000
Neurological phenotype in Waardenburg syndrome type 4 correlates with novel SOX10 truncating mutations and expression in developing brain
R L Touraine, T Attié-Bitach, E Manceau, 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.
American Journal of Human Genetics
|
May 1, 1997
Multiple independent molecular etiology for limb-girdle muscular dystrophy type 2A patients from various geographical origins
I Richard, L Brenguier, P Dinçer, et al.
Annals of Neurology
|
February 16, 1999
Friedreich's ataxia: point mutations and clinical presentation of compound heterozygotes
M Cossée, A Dürr, M Schmitt, et al.
Annales De Genetique
|
January 1, 1997
Collaborative study of mosaic tetrasomy 12p or Pallister-Killian syndrome (nineteen fetuses or children)
M Mathieu, C Piussan, F Thepot, et al.
American Journal of Human Genetics
|
January 24, 2004
Mutations within the MGC4607 gene cause cerebral cavernous malformations
C Denier, S Goutagny, P Labauge, et al.
Nature Genetics
|
August 2, 2001
Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13
J Magré, M Delépine, E Khallouf, et al.
Page
of 5
Search research articles
Search
Showing results (41-50 of 48) with videos related to
Sort By:
Page
of 5
You have reached the last page of results.
This site can display upto 48 results.
Clinical Genetics
|
December 1, 1996
Increased paternal age in CHARGE association
A L Tellier, S Lyonnet, V Cormier-Daire, et al.
American Journal of Human Genetics
|
April 14, 2000
Neurological phenotype in Waardenburg syndrome type 4 correlates with novel SOX10 truncating mutations and expression in developing brain
R L Touraine, T Attié-Bitach, E Manceau, 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.
American Journal of Human Genetics
|
May 1, 1997
Multiple independent molecular etiology for limb-girdle muscular dystrophy type 2A patients from various geographical origins
I Richard, L Brenguier, P Dinçer, et al.
Annals of Neurology
|
February 16, 1999
Friedreich's ataxia: point mutations and clinical presentation of compound heterozygotes
M Cossée, A Dürr, M Schmitt, et al.
Annales De Genetique
|
January 1, 1997
Collaborative study of mosaic tetrasomy 12p or Pallister-Killian syndrome (nineteen fetuses or children)
M Mathieu, C Piussan, F Thepot, et al.
American Journal of Human Genetics
|
January 24, 2004
Mutations within the MGC4607 gene cause cerebral cavernous malformations
C Denier, S Goutagny, P Labauge, et al.
Nature Genetics
|
August 2, 2001
Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13
J Magré, M Delépine, E Khallouf, et al.
Page
of 5