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Volume 44; Issue 1
Main
Clinical Genetics
Volume 44; Issue 1
Clinical Genetics
Volume 44; Issue 1
1
Familial bilateral antecubital pterygia with severe renal involvement in nail-patella syndrome
R. Rizzo
,
L. Pavone
,
G. Micali
,
J. G. Hall
Journal:
Clinical Genetics
Year:
1993
Language:
english
File:
PDF, 840 KB
Your tags:
english, 1993
2
Prenatal diagnosis of congenital sialidosis
N. Sasagasako
,
S. Miyahara
,
N. Saito
,
N. Shinnoh
,
T. Kobayashi
,
I. Goto
Journal:
Clinical Genetics
Year:
1993
Language:
english
File:
PDF, 507 KB
Your tags:
english, 1993
3
Frequency of the ΔF508 and exon 11 mutations in Norwegian cystic fibrosis patients
Kristin Eiklid
,
Lisbeth Tranebjærg
,
Hans G. Eiken
,
Jan C. Pedersen
,
Helge Michalsen
,
Gjermund Fluge
,
Marianne Schwartz
,
Bjørn R. Nilsen
,
Roald Bolle
,
Dag Skyberg
,
Helge Boman
,
Kare Berg
Journal:
Clinical Genetics
Year:
1993
Language:
english
File:
PDF, 201 KB
Your tags:
english, 1993
4
Congenital contractural arachnodactyly in two double second cousins: possible homozygosity
Tzvy Bistritzer
,
Kalman Fried
,
Eli Lahat
,
Michaela Dvir
,
Michael Goldberg
Journal:
Clinical Genetics
Year:
1993
Language:
english
File:
PDF, 608 KB
Your tags:
english, 1993
5
Craniofacial anthropometric studies in Waardenburg syndrome type I
Elias O. Da-Silva
,
Jose E. M. Batista
,
Marco A. B. Medeiros
,
Sônia M. S. Fonteles
Journal:
Clinical Genetics
Year:
1993
Language:
english
File:
PDF, 596 KB
Your tags:
english, 1993
6
Ring chromosome 20 with loss of telomeric sequences detected by multicolour PRINS
Carsten A. Brandt
,
Ole Kierkegaard
,
Johnny Hindkjær
,
Peter K. A. Jensen
,
Søren Pedersen
,
Aage J. Therkelsen
Journal:
Clinical Genetics
Year:
1993
Language:
english
File:
PDF, 659 KB
Your tags:
english, 1993
7
A family study on isolated congenital radial and tibial deficiencies in Hungary, 1975–1984
A. E. Czeizel
,
M. Vitéz
,
I. Kodaj
,
W. Lenz
Journal:
Clinical Genetics
Year:
1993
Language:
english
File:
PDF, 443 KB
Your tags:
english, 1993
8
Proposed: an international code of ethics for medical genetics
Dorothy C. Wertz
,
John C. Fletcher
Journal:
Clinical Genetics
Year:
1993
Language:
english
File:
PDF, 605 KB
Your tags:
english, 1993
9
A simplified method for detection of the mutations predominantly causing cystic fibrosis and phenylketonuria in Polish families
Michal Witt
,
Jadwiga Jaruzelska
,
Izabela Kuczora
,
Renata Matuszak
,
Wojciech Cichy
,
Krzysztof Borski
Journal:
Clinical Genetics
Year:
1993
Language:
english
File:
PDF, 242 KB
Your tags:
english, 1993
10
Frontonasal malformation and reciprocal translocation t(15;22)(q22;q13)
J. P. Fryns
,
A. Kleczkowska
,
H. van den Berghe
Journal:
Clinical Genetics
Year:
1993
Language:
english
File:
PDF, 159 KB
Your tags:
english, 1993
11
Phenotypic intrafamilial heterogeneity in cystic fibrosis
G. Borgo
,
G. Cabrini
,
G. Mastella
,
P. Ronchetto
,
M. Devoto
,
G. Romeo
Journal:
Clinical Genetics
Year:
1993
Language:
english
File:
PDF, 174 KB
Your tags:
english, 1993
12
The breakpoints of the EEC syndrome (ectrodactyly, ectodermal dysplasia and cleft lip/palate) confirmed to 7q11.21 and 9p12 by fluorescence in situ hybridization
Yoshimitsu Fukushima
,
Hirofumi Ohashi
,
Tomonobu Hasegawa
Journal:
Clinical Genetics
Year:
1993
Language:
english
File:
PDF, 82 KB
Your tags:
english, 1993
13
Malignant lymphoma in a Bloom's syndrome patient treated with insulin
Naomi Kondo
,
Yukiji Yamada
,
Junichi Asano
,
Yoshikazu Yagi
,
Tadao Orii
Journal:
Clinical Genetics
Year:
1993
Language:
english
File:
PDF, 112 KB
Your tags:
english, 1993
14
Second observation of Silver-Russel syndrome in a carrier of a reciprocal translocation with one breakpoint at site 17q25
Alina T. Midro
,
Krystyna Debek
,
Anna Sawicka
,
Danuta Marcinkiewicz
,
Marianna Rogowska
Journal:
Clinical Genetics
Year:
1993
Language:
english
File:
PDF, 342 KB
Your tags:
english, 1993
15
Announcement
Journal:
Clinical Genetics
Year:
1993
File:
PDF, 25 KB
Your tags:
1993
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