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Volume 51; Issue 5
Main
Clinical Genetics
Volume 51; Issue 5
Clinical Genetics
Volume 51; Issue 5
1
MN blood group affects response of serum LDL cholesterol level to a low fat diet
Andrew J. Birley
,
Robert MacLennan
,
Mark Wahlqvist
,
Linda Gerns
,
Theresa Pangan
,
Nicholas G. Martin
Journal:
Clinical Genetics
Year:
1997
Language:
english
File:
PDF, 463 KB
Your tags:
english, 1997
2
Analysis of 65 Turkish patients with congenital aplastic anemia (Fanconi anemia and non-Fanconi anemia): Hacettepe experience
Çiǧjdem Altay
,
Mehmet Alikaşifoǧlu
,
Abdurrahman Kara
,
Ergül Tunçbilek
,
Namik Özbek
,
Trautte M. Schroeder-Kurth
Journal:
Clinical Genetics
Year:
1997
Language:
english
File:
PDF, 1.27 MB
Your tags:
english, 1997
3
High prevalence of a novel mutation in the exon 4 of the low-density lipoprotein receptor gene causing familial hypercholesterolemia in Belgium
O. Descamps
,
J-C. Hondekijn
,
P. Van Acker
,
J-P. Deslypere
,
F. R. Heller
Journal:
Clinical Genetics
Year:
1997
Language:
english
File:
PDF, 570 KB
Your tags:
english, 1997
4
Linkage studies exclude the AT-V gene(s) from the translocation breakpoints in an AT-V patient
Krystina Chrzanowska
,
Markus Stumm
,
Magdalena Bialecka
,
Kathrin Saar
,
Ewa Bernatowska-Matuszkiewicz
,
Jacek Michalkiewicz
,
Slawomir Barszcz
,
André Reis
,
Rolf-Dieter Wegner
Journal:
Clinical Genetics
Year:
1997
Language:
english
File:
PDF, 412 KB
Your tags:
english, 1997
5
The prevalence of Usher syndrome and other retinal dystrophy-hearing impairment associations
Thomas Rosenberg
,
Marianne Haim
,
Anne-Marie Hauch
,
Agnete Parving
Journal:
Clinical Genetics
Year:
1997
Language:
english
File:
PDF, 685 KB
Your tags:
english, 1997
6
Two novel missense mutations in the ATP-binding domain of the adrenoleukodystrophy gene: immunoblotting and immunocytological study of two patients
Atsushi Imamura
,
Yasuyuki Suzuki
,
Xiang-Qian Song
,
Toshiyuki Fukao
,
Atsushi Uchiyama
,
Nobuyuki Shimozawa
,
Keiju Kamijo
,
Takashi Hashimoto
,
Tadao Orii
,
Naomi Kondo
Journal:
Clinical Genetics
Year:
1997
Language:
english
File:
PDF, 571 KB
Your tags:
english, 1997
7
Lissencephaly associated with cerebellar hypoplasia and myoclonic epilepsy in a Bedouin kindred: a new syndrome?
S. Farah
,
M. A. Sabry
,
A. Khuraibet
,
S. Khaffagi
,
M. Rudwan
,
M. Hassan
,
N. Haseeb
,
S. Abulhassan
,
M. A. Abdel-Rasool
,
S. Elgamal
,
B. Qasrawi
,
W. Al-Busairi
,
T. I. Farag
Journal:
Clinical Genetics
Year:
1997
Language:
english
File:
PDF, 1.27 MB
Your tags:
english, 1997
8
Molecular and clinical studies of three cases of female pseudohermaphroditism with caudal dysplasia suggest multiple etiologies
Robert P. Erickson
,
J. F. Stone
,
Leslie A. McNoe
,
Michael R. Eccles
Journal:
Clinical Genetics
Year:
1997
Language:
english
File:
PDF, 1.14 MB
Your tags:
english, 1997
9
Pearson marrow pancreas syndrome: a molecular study and clinical management
Sara Seneca
,
Linda De Meirleir
,
Jean De Scbepper
,
Nadine Balduck
,
Kristin Jochmans
,
Inge Liebaers
,
Willy Lissens
Journal:
Clinical Genetics
Year:
1997
Language:
english
File:
PDF, 574 KB
Your tags:
english, 1997
10
Polydactyly and fetal hydantoin syndrome: an additional component of the syndrome?
Cengiz Yalçinkaya
,
Beyhan Tüysüz
,
Göksel Somay
,
Asim Cenani
Journal:
Clinical Genetics
Year:
1997
Language:
english
File:
PDF, 933 KB
Your tags:
english, 1997
11
Molecular studies of an X;Y translocation chromosome in a woman with deletion of the pseudoautosomal region but normal height
S. Spranger
,
S. Kirsch
,
A. Mertz
,
K. Schiebel
,
G. Tariverdian
,
G.A. Rappold
Journal:
Clinical Genetics
Year:
1997
Language:
english
File:
PDF, 657 KB
Your tags:
english, 1997
12
Female pseudohermaphroditism due to classical 21-hydroxylase deficiency in a girl with Turner syndrome
Andréa Trevas Maciel-Guerra
,
Gil Guerra Jr
,
Sofia Helena V L Marini
,
Maria Tereza Matias Baptista
,
Antonia Paula Marques-de-Faria
Journal:
Clinical Genetics
Year:
1997
Language:
english
File:
PDF, 467 KB
Your tags:
english, 1997
13
APO E Polymorphism in Spanish and Moroccan populations
N. Valveny
,
E. Esteban
,
M. Kandil
,
P. Moral
Journal:
Clinical Genetics
Year:
1997
Language:
english
File:
PDF, 274 KB
Your tags:
english, 1997
14
Brachydactyly in a child with duplication-deficiency subsequent to t(15;20)(q25.2;p12.2)mat. Candidate regions on one or both chromosomes?
R. A. Pfeiffer
,
Chr. Kändler
,
E. Sieber
,
A. Rauch
,
U. Trautmann
Journal:
Clinical Genetics
Year:
1997
Language:
english
File:
PDF, 381 KB
Your tags:
english, 1997
15
Two new polymorphisms in the BRCA 1 gene
Josep Oriola
,
Esther Titos
,
Albert Leivas
,
Miguel-Angel Navarro
,
Francisca Rivera-Fillat
Journal:
Clinical Genetics
Year:
1997
Language:
english
File:
PDF, 264 KB
Your tags:
english, 1997
16
Announcements
Journal:
Clinical Genetics
Year:
1997
Language:
english
File:
PDF, 75 KB
Your tags:
english, 1997
1
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