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Volume 54; Issue 1
Main
Clinical Genetics
Volume 54; Issue 1
Clinical Genetics
Volume 54; Issue 1
1
Hemochromatosis: genetics helps to define a multifactorial disease
Wylie Burke
,
Nancy Press
,
Sharon M McDonnell
Journal:
Clinical Genetics
Year:
1998
Language:
english
File:
PDF, 876 KB
Your tags:
english, 1998
2
Developmental Biology: Frontiers for Clinical Genetics
Roderick R. McInnes M.D.
Journal:
Clinical Genetics
Year:
1998
Language:
english
File:
PDF, 43 KB
Your tags:
english, 1998
3
Recent progress in the molecular genetics of congenital heart defects
John W. Belmont
Journal:
Clinical Genetics
Year:
1998
Language:
english
File:
PDF, 1.91 MB
Your tags:
english, 1998
4
New insights into the genetics of lissencephaly
Cheryl Wellington
Journal:
Clinical Genetics
Year:
1998
Language:
english
File:
PDF, 330 KB
Your tags:
english, 1998
5
An unexpected cause for combined deficiency of coagulation factors V and VIII
Journal:
Clinical Genetics
Year:
1998
Language:
english
File:
PDF, 258 KB
Your tags:
english, 1998
6
Spinal muscular atrophy: a disease of altered RNA metabolism?
Journal:
Clinical Genetics
Year:
1998
Language:
english
File:
PDF, 396 KB
Your tags:
english, 1998
7
Linkage analysis in a large Spanish family with X-linked retinitis pigmentosa: phenotype—genotype correlation
C. Capeans
,
M. J. Blanco
,
M. V. Lareu
,
F. Barros
,
A. Piñeiro
,
M. Sanchez-Salorio
,
A. Carracedo
Journal:
Clinical Genetics
Year:
1998
Language:
english
File:
PDF, 562 KB
Your tags:
english, 1998
8
Association of long variants of the dopamine D4 receptor exon 3 repeat polymorphism with Parkinson's disease
Michael H. Ricketts
,
Robert M. Hamer
,
Paul Manowitz
,
Fei Feng
,
Jacob I. Sage
,
Rocco Di Paola
,
Matthew A. Menza
Journal:
Clinical Genetics
Year:
1998
Language:
english
File:
PDF, 464 KB
Your tags:
english, 1998
9
Low frequency of RET mutations in Hirschsprung disease in Sweden
Pär-Johan Svensson
,
Marie-Louise Molander
,
Charis Eng
,
Maria Anvret
,
Agneta Nordenskjöld
Journal:
Clinical Genetics
Year:
1998
Language:
english
File:
PDF, 720 KB
Your tags:
english, 1998
10
Analysis of an interstitial deletion in a patient with Kallmann syndrome, X-linked ichthyosis and mental retardation
R. Weissörtel
,
T. M. Strom
,
H. G. Dörr
,
A. Rauch
,
T. Meitinger
Journal:
Clinical Genetics
Year:
1998
Language:
english
File:
PDF, 1.53 MB
Your tags:
english, 1998
11
Female external genitalia, absent uterus, and probable agonadism in a 46,XY infant with bilateral upper amelia
Yo-ichiro Ohro
,
Yoshimi Suzuki
,
Yoshiyuki Tsutsumi
,
Tsutomu Ogata
Journal:
Clinical Genetics
Year:
1998
Language:
english
File:
PDF, 696 KB
Your tags:
english, 1998
12
Phenotypic and genotypic variability in monozygotic triplets with Turner syndrome
J. Lespinasse
,
C. Gicquel
,
M. Robert
,
Y. Le Bouc
Journal:
Clinical Genetics
Year:
1998
Language:
english
File:
PDF, 525 KB
Your tags:
english, 1998
13
A case of Prader – Willi syndrome arising as a result of familial unbalanced translocation t(11;15)(q25;q13)
Malgorzata Krajewska Walasek
,
Anna Gutkowska
,
Beata Bielińska
,
Bozenna Goryluk-Kozakiewicz
,
Ewa Popowska
Journal:
Clinical Genetics
Year:
1998
Language:
english
File:
PDF, 996 KB
Your tags:
english, 1998
14
De novo direct duplication 2 (p12 p21) with paternally inherited pericentric inversion 2p11.2 2q12.2
A. C. Magee
,
M. W. Humphreys
,
S. McKee
,
M. Stewart
,
N. C. Nevin
Journal:
Clinical Genetics
Year:
1998
Language:
english
File:
PDF, 1.76 MB
Your tags:
english, 1998
15
Functional mosaic trisomy of 1q12 1q21 resulting from X-autosome insertion translocation with random inactivation
A. Vust
,
D. Riordan
,
D. Wickstrom
,
A. E. Chudley
,
A. J. Dawson
Journal:
Clinical Genetics
Year:
1998
Language:
english
File:
PDF, 669 KB
Your tags:
english, 1998
16
Familial hypercholesterolemia: potential diagnostic value of mutation screening in a pediatric population of South Africa
Maritha J. Kotze
,
Armand V. Peeters
,
Odell Loubser
,
Leonora Theart
,
Lana du Plessis
,
Vanessa M. Hayes
,
Greetje de Jong
,
J. Nico P. de Villiers
,
Carl J. Lombard
,
Peter S. Hansen
,
Frederick J. Raal
Journal:
Clinical Genetics
Year:
1998
Language:
english
File:
PDF, 409 KB
Your tags:
english, 1998
17
Mutation screening of the LDLR gene and ApoB gene in patients with a phenotype of familial hypercholesterolemia and normal values in a functional LDL receptor/apolipoprotein B assay
Henrik Nissen
,
Sophie Lestavel
,
Torben Stiig Hansen
,
Gérald Luc
,
Eric Bruckert
,
Veronique Clavey
Journal:
Clinical Genetics
Year:
1998
Language:
english
File:
PDF, 371 KB
Your tags:
english, 1998
18
Autosomal dominant inheritance of adducted thumbs and other digital anomalies
A. Miranda
,
J. C. Zenteno
,
E. Santiago
,
S. Kofman-Alfaro
Journal:
Clinical Genetics
Year:
1998
Language:
english
File:
PDF, 722 KB
Your tags:
english, 1998
19
Marden—Walker syndrome versus isolated distal arthrogryposis: Evidence that both conditions may be variable manifestations of the same mutated gene
J. P. Fryns
,
D. Willekens
,
D. van Schoubroeck
,
Ph. Moerman
Journal:
Clinical Genetics
Year:
1998
Language:
english
File:
PDF, 1.35 MB
Your tags:
english, 1998
20
Infectious complications of propionic acidemia in Saudia Arabia
M. Al. Essa
,
Z. Rahbeeni
,
S. Jumaah
,
S. Joshi
,
E. Al. Jishi
,
M. S. Rashed
,
M. Al. Amoudi
,
P. T. Ozand
Journal:
Clinical Genetics
Year:
1998
Language:
english
File:
PDF, 903 KB
Your tags:
english, 1998
21
SKALP/elafin gene polymorphisms are not associated with pustular forms of psoriasis
Astrid LA. Kuijpers
,
Rolph Pfundt
,
Patrick LJM Zeeuwen
,
Henri OF. Molhuizen
,
Edwin CM. Mariman
,
Peter CM. van de Kerkhof
,
Joost Schalkwijk
Journal:
Clinical Genetics
Year:
1998
Language:
english
File:
PDF, 683 KB
Your tags:
english, 1998
22
Polymorphic exonic CAG microsatellites in the gene amplified in breast cancer (AIB1 gene)
Sherin K Shirazi
,
Mary A Bober
,
Gerhard A Coetzee
Journal:
Clinical Genetics
Year:
1998
Language:
english
File:
PDF, 181 KB
Your tags:
english, 1998
23
Sac I identifies a biallelic polymorphism in the coding sequence of the gamma subunit of the epithelial sodium channel (ENaC): a candidate gene for hypertension
Rita Viaplana
,
Esteban Poch
,
Sergio Lario
,
Josep Oriola
,
Daniel González
,
Albert Botey
,
Francisca Rivera
Journal:
Clinical Genetics
Year:
1998
Language:
english
File:
PDF, 254 KB
Your tags:
english, 1998
24
Apolipoprotein E and A-IV polymorphisms in the Estonian population
Terho Lehtimäki
,
Toomas Uibu
,
Pekka Roto
,
Timo Koivula
,
Hannu Jokela
,
Christian Ehnholm
,
Nina Peltonen
,
Tapio Nikkari
Journal:
Clinical Genetics
Year:
1998
Language:
english
File:
PDF, 163 KB
Your tags:
english, 1998
25
Phenotypic spectrum of tetrasomy 12p and prenatal counseling: potential underestimation of severity
Iosif W. Lurie M.D.
Journal:
Clinical Genetics
Year:
1998
Language:
english
File:
PDF, 160 KB
Your tags:
english, 1998
26
The use of a specific clinical history in counselling a family with the balanced translocation 46,XY,t(4;12)(p15.2;q21.3): viable offspring with partial monosomy 4p and trisomy 12q
C. J. Wilson
Journal:
Clinical Genetics
Year:
1998
Language:
english
File:
PDF, 156 KB
Your tags:
english, 1998
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