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Clinical Genetics
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January 10, 2001
A boy with a submicroscopic 22qter deletion, general overgrowth and features suggestive of FG syndrome
B B de Vries, M Bitner-Glindzicz, S J Knight, et al.
Human Molecular Genetics
|
August 1, 1994
Localization of the genetic locus for Saethre-Chotzen syndrome to a 6 cM region of chromosome 7 using four cases with apparently balanced translocations at 7p21.2
C S Rose, A A King, D Summers, et al.
American Journal of Medical Genetics
|
October 1, 1993
Mesomelic limb shortness: a previously unreported autosomal recessive type
W Reardon, C M Hall, S Slaney, et al.
American Journal of Medical Genetics
|
November 1, 1993
Association of familial Duane anomaly and urogenital abnormalities with a bisatellited marker derived from chromosome 22
P Cullen, C S Rodgers, D F Callen, et al.
Nature Genetics
|
February 1, 1995
Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes
P Rutland, L J Pulleyn, W Reardon, et al.
Diabetologia
|
April 1, 1985
Type 1 (insulin-dependent) diabetes and a highly variable locus close to the insulin gene on chromosome 11
G A Hitman, A C Tarn, R M Winter, et al.
Nature Genetics
|
May 20, 1998
Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosis
D J Shears, H J Vassal, F R Goodman, et al.
Clinical Dysmorphology
|
August 5, 1998
Frontonasal dysplasia with optic disc anomalies and other midline craniofacial defects: a report of six cases
M M Lees, P Hodgkins, W Reardon, et al.
Journal of Medical Genetics
|
August 1, 1997
Counselling dilemmas associated with the molecular characterisation of two Angelman syndrome families
H L Gilbert, J L Buxton, C T Chan, et al.
American Journal of Medical Genetics
|
July 1, 1994
Six cases of 7p deletion: clinical, cytogenetic, and molecular studies
K A Chotai, L A Brueton, L van Herwerden, et al.
Page
of 22
Search research articles
Search
Showing results (191-200 of 219) with videos related to
Sort By:
Page
of 22
Clinical Genetics
|
January 10, 2001
A boy with a submicroscopic 22qter deletion, general overgrowth and features suggestive of FG syndrome
B B de Vries, M Bitner-Glindzicz, S J Knight, et al.
Human Molecular Genetics
|
August 1, 1994
Localization of the genetic locus for Saethre-Chotzen syndrome to a 6 cM region of chromosome 7 using four cases with apparently balanced translocations at 7p21.2
C S Rose, A A King, D Summers, et al.
American Journal of Medical Genetics
|
October 1, 1993
Mesomelic limb shortness: a previously unreported autosomal recessive type
W Reardon, C M Hall, S Slaney, et al.
American Journal of Medical Genetics
|
November 1, 1993
Association of familial Duane anomaly and urogenital abnormalities with a bisatellited marker derived from chromosome 22
P Cullen, C S Rodgers, D F Callen, et al.
Nature Genetics
|
February 1, 1995
Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes
P Rutland, L J Pulleyn, W Reardon, et al.
Diabetologia
|
April 1, 1985
Type 1 (insulin-dependent) diabetes and a highly variable locus close to the insulin gene on chromosome 11
G A Hitman, A C Tarn, R M Winter, et al.
Nature Genetics
|
May 20, 1998
Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosis
D J Shears, H J Vassal, F R Goodman, et al.
Clinical Dysmorphology
|
August 5, 1998
Frontonasal dysplasia with optic disc anomalies and other midline craniofacial defects: a report of six cases
M M Lees, P Hodgkins, W Reardon, et al.
Journal of Medical Genetics
|
August 1, 1997
Counselling dilemmas associated with the molecular characterisation of two Angelman syndrome families
H L Gilbert, J L Buxton, C T Chan, et al.
American Journal of Medical Genetics
|
July 1, 1994
Six cases of 7p deletion: clinical, cytogenetic, and molecular studies
K A Chotai, L A Brueton, L van Herwerden, et al.
Page
of 22