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Volume 30; Issue 1
Main
Journal of Medical Genetics
Volume 30; Issue 1
Journal of Medical Genetics
Volume 30; Issue 1
1
The newly recognised limb/pelvis-hypoplasia/aplasia syndrome: report of a Bedouin patient and review.
Farag, T I
,
al-Awadi, S A
,
Marafie, M J
,
Bastaki, L
,
al-Othman, S A
,
Mohammed, F M
,
AlSuliman, I S
,
Murthy, D S
Journal:
Journal of Medical Genetics
Year:
1993
Language:
english
File:
PDF, 852 KB
Your tags:
english, 1993
2
Medical genetics: advances in brief: Deletion polymorphism in the gene for angiotensin-converting enzyme is a potent risk factor for myocardial infarction
Wilkie, A.
Journal:
Journal of Medical Genetics
Year:
1993
Language:
english
File:
PDF, 253 KB
Your tags:
english, 1993
3
Medical genetics: advances in brief: Incidence and expression of the N1303K mutation of the cystic fibrosis (CFTR) gene
Barber, J. C K
Journal:
Journal of Medical Genetics
Year:
1993
Language:
english
File:
PDF, 253 KB
Your tags:
english, 1993
4
Another example favouring the location of BPES at 3q2.
de Almeida, J C
,
Llerena Junior, J C
,
Goncalves Neto, J B
,
Jung, M
,
Martins, R R
Journal:
Journal of Medical Genetics
Year:
1993
Language:
english
File:
PDF, 329 KB
Your tags:
english, 1993
5
Mosaicism for duplication 12q (12q13-->q24.2) in a dysmorphic male infant.
Dixon, J W
,
Costa, T
,
Teshima, I E
Journal:
Journal of Medical Genetics
Year:
1993
Language:
english
File:
PDF, 900 KB
Your tags:
english, 1993
6
Arthrogryposis, ophthalmoplegia, and retinopathy: confirmation of a new type of arthrogryposis.
Schrander-Stumpel, C T
,
Howeler, C J
,
Reekers, A D
,
De Smet, N M
,
Hall, J G
,
Fryns, J P
Journal:
Journal of Medical Genetics
Year:
1993
Language:
english
File:
PDF, 1.15 MB
Your tags:
english, 1993
7
Reproductive possibilities for balanced translocation (14) carriers in families with partial trisomy of proximal 14q.
Valkova, G
,
Stefanova, M
Journal:
Journal of Medical Genetics
Year:
1993
Language:
english
File:
PDF, 676 KB
Your tags:
english, 1993
8
Variability of expression in tuberous sclerosis.
Northrup, H
,
Wheless, J W
,
Bertin, T K
,
Lewis, R A
Journal:
Journal of Medical Genetics
Year:
1993
Language:
english
File:
PDF, 607 KB
Your tags:
english, 1993
9
The rapid analysis of dystrophin gene deletions shows variable electrophoretic mobility.
Neilan, B A
,
Leigh, D A
,
McDonald, B L
Journal:
Journal of Medical Genetics
Year:
1993
Language:
english
File:
PDF, 393 KB
Your tags:
english, 1993
10
Human Gene Mapping 11. The Eleventh International Workshop on Human Gene Mapping
Harper, P. S
Journal:
Journal of Medical Genetics
Year:
1993
Language:
english
File:
PDF, 299 KB
Your tags:
english, 1993
11
The morbid anatomy of the human genome: chromosomal location of mutations causing disease.
McKusick, V A
,
Amberger, J S
Journal:
Journal of Medical Genetics
Year:
1993
Language:
english
File:
PDF, 4.08 MB
Your tags:
english, 1993
12
Limb/pelvis-hypoplasia/aplasia syndrome (Al-Awadi/Raas-Rothschild syndrome): report of two Italian sibs and further confirmation of autosomal recessive inheritance.
Camera, G
,
Ferraiolo, G
,
Leo, D
,
Spaziale, A
,
Pozzolo, S
Journal:
Journal of Medical Genetics
Year:
1993
Language:
english
File:
PDF, 1.70 MB
Your tags:
english, 1993
13
Correction
Journal:
Journal of Medical Genetics
Year:
1993
Language:
english
File:
PDF, 114 KB
Your tags:
english, 1993
14
Holoprosencephaly: a family showing dominant inheritance and variable expression.
Collins, A L
,
Lunt, P W
,
Garrett, C
,
Dennis, N R
Journal:
Journal of Medical Genetics
Year:
1993
Language:
english
File:
PDF, 1.49 MB
Your tags:
english, 1993
15
Parental age, genetic mutation, and cerebral palsy.
Fletcher, N A
,
Foley, J
Journal:
Journal of Medical Genetics
Year:
1993
Language:
english
File:
PDF, 556 KB
Your tags:
english, 1993
16
Polycystic Kidney Disease
Ravine, D.
Journal:
Journal of Medical Genetics
Year:
1993
Language:
english
File:
PDF, 299 KB
Your tags:
english, 1993
17
Incontinentia pigmenti (Bloch-Sulzberger syndrome).
Landy, S J
,
Donnai, D
Journal:
Journal of Medical Genetics
Year:
1993
Language:
english
File:
PDF, 2.27 MB
Your tags:
english, 1993
18
Medical genetics: advances in brief: Deletions within chromosome 22q11 in familial congenital heart disease
Reardon, W
Journal:
Journal of Medical Genetics
Year:
1993
Language:
english
File:
PDF, 240 KB
Your tags:
english, 1993
19
The clinical features of spondyloepiphyseal dysplasia congenita resulting from the substitution of glycine 997 by serine in the alpha 1(II) chain of type II collagen.
Cole, W G
,
Hall, R K
,
Rogers, J G
Journal:
Journal of Medical Genetics
Year:
1993
Language:
english
File:
PDF, 3.43 MB
Your tags:
english, 1993
20
Medical genetics: advances in brief: Omission of exon 12 in cystic fibrosis transmembrane conductance regulator (CFTR) gene transcripts
Harvey, J. F
Journal:
Journal of Medical Genetics
Year:
1993
Language:
english
File:
PDF, 253 KB
Your tags:
english, 1993
21
Humeroradioulnar synostosis in a patient with lambdoid synostosis.
Edwards, T J
,
Haan, E A
,
Humphrey, I J
Journal:
Journal of Medical Genetics
Year:
1993
Language:
english
File:
PDF, 514 KB
Your tags:
english, 1993
22
The Cystic Kidney
Ravine, D.
Journal:
Journal of Medical Genetics
Year:
1993
Language:
english
File:
PDF, 299 KB
Your tags:
english, 1993
23
Delayed speech development, facial asymmetry, strabismus, and transverse ear lobe creases: a new syndrome?
Mehes, K
Journal:
Journal of Medical Genetics
Year:
1993
Language:
english
File:
PDF, 397 KB
Your tags:
english, 1993
24
Waardenburg syndrome and myelomeningocele in a family.
Chatkupt, S
,
Chatkupt, S
,
Johnson, W G
Journal:
Journal of Medical Genetics
Year:
1993
Language:
english
File:
PDF, 420 KB
Your tags:
english, 1993
25
Medical genetics: advances in brief
Thakker, N S
Journal:
Journal of Medical Genetics
Year:
1993
Language:
english
File:
PDF, 253 KB
Your tags:
english, 1993
26
Exclusion of familial dysautonomia from more than 60% of the genome.
Blumenfeld, A
,
Axelrod, F B
,
Trofatter, J A
,
Maayan, C
,
Lucente, D E
,
Slaugenhaupt, S A
,
Liebert, C B
,
Ozelius, L J
,
Haines, J L
,
Breakefield, X O
Journal:
Journal of Medical Genetics
Year:
1993
Language:
english
File:
PDF, 992 KB
Your tags:
english, 1993
27
A new approach to prenatal cystic fibrosis carrier screening.
Miedzybrodzka, Z
,
Haites, N
,
Dean, J
Journal:
Journal of Medical Genetics
Year:
1993
Language:
english
File:
PDF, 329 KB
Your tags:
english, 1993
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