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Valerie Mayne
Observed names:
V Mayne,
V. M. Mayne,
V. MAYNE,
V. Mayne
Institution:
Royal Children's Hospital
Observed institutions:
Royal Children's Hospital,
Children's Hospital of Philadelphia,
The University of Melbourne,
Monash Medical Centre,
Monash Health
OpenAlex ID:
A5110063971
Menkes's Kinky Hair Syndrome
1972
·
David M. Danks
, Peter E. Campbell
, et al.
·
PEDIATRICS
·
624
Asphyxiating thoracic dysplasia. Clinical, radiological, and pathological information on 10 patients.
1977
·
F Oberklaid
, D M Danks
, et al.
·
Archives of Disease in Childhood
·
144
PDF
Chondrodysplasia punctata—23 cases of a mild and relatively common variety
1976
·
Leslie J. Sheffield
, David M. Danks
, et al.
·
The Journal of Pediatrics
·
128
Monoallelic BMP2 Variants Predicted to Result in Haploinsufficiency Cause Craniofacial, Skeletal, and Cardiac Features Overlapping Those of 20p12 Deletions
2017
·
Tiong Yang Tan
, Claudia Gonzaga-Jauregui
, et al.
·
The American Journal of Human Genetics
·
54
PDF
Radiological findings in total aganglionosis coli
1984
·
J. F. De Campo
, Valerie Mayne
, et al.
·
Pediatric Radiology
·
48
Bi-allelic Variations of SMO in Humans Cause a Broad Spectrum of Developmental Anomalies Due to Abnormal Hedgehog Signaling
2020
·
Thuy-Linh Le
, Yunia Sribudiani
, et al.
·
The American Journal of Human Genetics
·
36
PDF
Pulmonary sequenstration and related congenital disorders
1989
·
P. R. John
, S. W. Beasley
, et al.
·
Pediatric Radiology
·
36
Metaphyseal chondrodysplasia, neutropenia, and pancreatic insufficiency presenting with respiratory distress in the neonatal period.
1976
·
D M Danks
, R Haslam
, et al.
·
Archives of Disease in Childhood
·
30
PDF
Is Menkes' Syndrome a Heritable Disorder of Connective Tissue ?
1971
·
DavidM. Danks
, Elizabeth Cartwright
, et al.
·
The Lancet
·
25
Craniomandibular dermatodysostosis.
1974
·
D M Danks
, V Mayne
, et al.
·
PubMed
·
19
Primary skeletal dysplasia as a major manifesting feature in an infant with congenital disorder of glycosylation type Ia
2008
·
D. Coman
, D. Bostock
, et al.
·
American Journal of Medical Genetics Part A
·
16
The Sanfilippo Syndrome: Clinical, Biochemical, Radiological, Haematological and Pathological Features of Nine Cases
1972
·
D. M. DANKS
, P. E. CAMPBELL
, et al.
·
Journal of Paediatrics and Child Health
·
15
Precocious Type of Osteodysplasia
1973
·
K. Kozlowski
, V. Mayne
, et al.
·
Acta Radiologica Diagnosis
·
14
Break‐dancing injuries
1986
·
Ronald S.A. Dorey
, Valerie Mayne
·
The Medical Journal of Australia
·
10
Rickets in Melbourne
1972
·
Valerie Mayne
, David McCredie
·
The Medical Journal of Australia
·
9
Two sibs who are double heterozygotes for achondroplasia and pseudoachondroplastic dysplasia.
1994
·
C G Woods
, J G Rogers
, et al.
·
Journal of Medical Genetics
·
8
PDF
Osebold‐Remondini syndrome vs chondrodysplasia punctata
1987
·
L. J. Sheffield
, V. M. Mayne
, et al.
·
American Journal of Medical Genetics
·
5
Obstruction in the refluxing urinary tract — a common phenomenon
1989
·
D.M. Leighton
, V. Mayne
·
Clinical Radiology
·
4
A precocious, autosomal recessive type of osteodysplasty.
1974
·
D M Danks
, V Mayne
, et al.
·
PubMed
·
4
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Works count:
19
Citation count:
1,229
H-index:
13
I10-index:
14
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