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American Journal of Medical Genetics
|
October 23, 1997
Dominant coloboma-microphthalmos syndrome associated with sensorineural hearing loss, hematuria, and cleft lip/palate
D Ravine, N K Ragge, D Stephens, et al.
Archives of Disease in Childhood. Fetal and Neonatal Edition
|
April 30, 2003
Sporadic case of fatal encephalopathy with neonatal onset associated with a T158M missense mutation in MECP2
S A Lynch, S D Whatley, V Ramesh, et al.
Archives of Disease in Childhood
|
March 23, 1999
Growth in Sotos syndrome
J C Agwu, N J Shaw, J Kirk, et al.
Archives of Disease in Childhood
|
May 27, 2010
Valproate and risk of fracture in Rett syndrome
H Leonard, J Downs, L Jian, et al.
Kidney International
|
September 18, 1997
Association of the angiotensin I converting enzyme gene deletion polymorphism with early onset of ESRF in PKD1 adult polycystic kidney disease
K Baboolal, D Ravine, J Daniels, et al.
Lancet (London, England)
|
April 2, 1994
Evaluation of ultrasonographic diagnostic criteria for autosomal dominant polycystic kidney disease 1
D Ravine, R N Gibson, R G Walker, et al.
Lancet (London, England)
|
January 19, 1991
Treatable complications in undiagnosed cases of autosomal dominant polycystic kidney disease
D Ravine, R G Walker, R N Gibson, et al.
Journal of Medical Genetics
|
June 1, 1997
Improved molecular diagnosis of facioscapulohumeral muscular dystrophy (FSHD): validation of the differential double digestion for FSHD
M Upadhyaya, J Maynard, M T Rogers, et al.
American Journal of Medical Genetics
|
April 15, 1994
Nevoid basal cell carcinoma syndrome: review of 118 affected individuals
S Shanley, J Ratcliffe, A Hockey, et al.
Kidney International
|
September 29, 2001
Confirmation of a gene locus for medullary cystic kidney disease (MCKD2) on chromosome 16p12
N Hateboer, C Gumbs, M D Teare, et al.
Page
of 5
Search research articles
Search
Showing results (11-20 of 41) with videos related to
Sort By:
Page
of 5
American Journal of Medical Genetics
|
October 23, 1997
Dominant coloboma-microphthalmos syndrome associated with sensorineural hearing loss, hematuria, and cleft lip/palate
D Ravine, N K Ragge, D Stephens, et al.
Archives of Disease in Childhood. Fetal and Neonatal Edition
|
April 30, 2003
Sporadic case of fatal encephalopathy with neonatal onset associated with a T158M missense mutation in MECP2
S A Lynch, S D Whatley, V Ramesh, et al.
Archives of Disease in Childhood
|
March 23, 1999
Growth in Sotos syndrome
J C Agwu, N J Shaw, J Kirk, et al.
Archives of Disease in Childhood
|
May 27, 2010
Valproate and risk of fracture in Rett syndrome
H Leonard, J Downs, L Jian, et al.
Kidney International
|
September 18, 1997
Association of the angiotensin I converting enzyme gene deletion polymorphism with early onset of ESRF in PKD1 adult polycystic kidney disease
K Baboolal, D Ravine, J Daniels, et al.
Lancet (London, England)
|
April 2, 1994
Evaluation of ultrasonographic diagnostic criteria for autosomal dominant polycystic kidney disease 1
D Ravine, R N Gibson, R G Walker, et al.
Lancet (London, England)
|
January 19, 1991
Treatable complications in undiagnosed cases of autosomal dominant polycystic kidney disease
D Ravine, R G Walker, R N Gibson, et al.
Journal of Medical Genetics
|
June 1, 1997
Improved molecular diagnosis of facioscapulohumeral muscular dystrophy (FSHD): validation of the differential double digestion for FSHD
M Upadhyaya, J Maynard, M T Rogers, et al.
American Journal of Medical Genetics
|
April 15, 1994
Nevoid basal cell carcinoma syndrome: review of 118 affected individuals
S Shanley, J Ratcliffe, A Hockey, et al.
Kidney International
|
September 29, 2001
Confirmation of a gene locus for medullary cystic kidney disease (MCKD2) on chromosome 16p12
N Hateboer, C Gumbs, M D Teare, et al.
Page
of 5