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Journal of Medical Genetics
|
December 1, 1989
Unknown syndrome: microcephaly, hypoplastic nose, exophthalmos, gum hyperplasia, cleft palate, low set ears, and osteosclerosis
J Raine, R M Winter, A Davey, et al.
American Journal of Medical Genetics
|
October 1, 1993
Cytogenetic evidence that the Saethre-Chotzen gene maps to 7p21.2
W Reardon, S P McManus, D Summers, et al.
Clinical Genetics
|
September 1, 1980
Sialidosis type 2 (acid neuraminidase deficiency): clinical and biochemical features of a further case
R M Winter, D M Swallow, M Baraitser, et al.
Journal of Medical Genetics
|
January 1, 1991
Oculofacialbulbar palsy in mother and son: review of 26 reports of familial transmission within the 'Möbius spectrum of defects'
K D MacDermot, R M Winter, D Taylor, et al.
American Journal of Medical Genetics
|
January 30, 1995
Male pseudohermaphroditism in sibs with the alpha-thalassemia/mental retardation (ATR-X) syndrome
W Reardon, R J Gibbons, R M Winter, et al.
Journal of Medical Genetics
|
January 1, 1991
Short stature/short limb skeletal dysplasia with severe combined immunodeficiency and bowing of the femora: report of two patients and review
K D MacDermot, R M Winter, J S Wigglesworth, et al.
Journal of Medical Genetics
|
October 1, 1993
Velocardiofacial syndrome in a mother and daughter: variability of the clinical phenotype
S E Holder, R M Winter, S Kamath, et al.
Journal of Medical Genetics
|
June 1, 1992
No evidence of linkage between the transforming growth factor-alpha gene in families with apparently autosomal dominant inheritance of cleft lip and palate
G M Vintiner, S E Holder, R M Winter, et al.
Journal of Medical Genetics
|
October 1, 1987
Epiphyseal dysplasia of the femoral head, mild vertebral abnormality, myopia, and sensorineural deafness: report of a pedigree with autosomal dominant inheritance
K D MacDermot, S C Roth, C Hall, et al.
Clinical Dysmorphology
|
January 29, 2000
Severe microcephaly, choreiform movements, cataracts and sensorineural deafness in two patients: a new syndrome?
A S Plomp, M Baraitser, S F Slaney, et al.
Page
of 22
Search research articles
Search
Showing results (101-110 of 219) with videos related to
Sort By:
Page
of 22
Journal of Medical Genetics
|
December 1, 1989
Unknown syndrome: microcephaly, hypoplastic nose, exophthalmos, gum hyperplasia, cleft palate, low set ears, and osteosclerosis
J Raine, R M Winter, A Davey, et al.
American Journal of Medical Genetics
|
October 1, 1993
Cytogenetic evidence that the Saethre-Chotzen gene maps to 7p21.2
W Reardon, S P McManus, D Summers, et al.
Clinical Genetics
|
September 1, 1980
Sialidosis type 2 (acid neuraminidase deficiency): clinical and biochemical features of a further case
R M Winter, D M Swallow, M Baraitser, et al.
Journal of Medical Genetics
|
January 1, 1991
Oculofacialbulbar palsy in mother and son: review of 26 reports of familial transmission within the 'Möbius spectrum of defects'
K D MacDermot, R M Winter, D Taylor, et al.
American Journal of Medical Genetics
|
January 30, 1995
Male pseudohermaphroditism in sibs with the alpha-thalassemia/mental retardation (ATR-X) syndrome
W Reardon, R J Gibbons, R M Winter, et al.
Journal of Medical Genetics
|
January 1, 1991
Short stature/short limb skeletal dysplasia with severe combined immunodeficiency and bowing of the femora: report of two patients and review
K D MacDermot, R M Winter, J S Wigglesworth, et al.
Journal of Medical Genetics
|
October 1, 1993
Velocardiofacial syndrome in a mother and daughter: variability of the clinical phenotype
S E Holder, R M Winter, S Kamath, et al.
Journal of Medical Genetics
|
June 1, 1992
No evidence of linkage between the transforming growth factor-alpha gene in families with apparently autosomal dominant inheritance of cleft lip and palate
G M Vintiner, S E Holder, R M Winter, et al.
Journal of Medical Genetics
|
October 1, 1987
Epiphyseal dysplasia of the femoral head, mild vertebral abnormality, myopia, and sensorineural deafness: report of a pedigree with autosomal dominant inheritance
K D MacDermot, S C Roth, C Hall, et al.
Clinical Dysmorphology
|
January 29, 2000
Severe microcephaly, choreiform movements, cataracts and sensorineural deafness in two patients: a new syndrome?
A S Plomp, M Baraitser, S F Slaney, et al.
Page
of 22