Volume 53; Issue 5

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Clinical Genetics
Volume 53; Issue 5

Clinical Genetics

Volume 53; Issue 5

1

Internet databases for clinical geneticists - an overview

MAM van Steensel, RM Winter

Journal:

Clinical Genetics

Year:

1998

Language:

english

File:

PDF, 1.54 MB

english, 1998

2

A new kind of mutation: dinucleotide deletions in Alzheimer's disease transcripts

Journal:

Clinical Genetics

Year:

1998

Language:

english

File:

PDF, 567 KB

english, 1998

3

Short polyalanine expansion: a new class of triplet repeat disorder

Journal:

Clinical Genetics

Year:

1998

Language:

english

File:

PDF, 120 KB

english, 1998

4

Extending a hand to GLI3: functionally different GLI3 mutations in postaxial polydactyly, Greig's cephalopolysyndactyly syndrome and Pallister—Hall syndrome

Journal:

Clinical Genetics

Year:

1998

Language:

english

File:

PDF, 818 KB

english, 1998

5

Developmental Biology: Frontiers for Clinical Genetics: Limb development: molecular dysmorphology is at hand!

Jeffrey W Innis, Douglas P Mortlock

Journal:

Clinical Genetics

Year:

1998

Language:

english

File:

PDF, 5.72 MB

english, 1998

6

Murine MPS I: insights into the pathogenesis of Hurler syndrome

Christopher Russell, Glenda Hendson, Gareth Jevon, Tina Matlock, Jessica Yu, Muktak Aklujkar, Kwok-Yu Ng, Lome A Clarke

Journal:

Clinical Genetics

Year:

1998

Language:

english

File:

PDF, 15.26 MB

english, 1998

7

Identification of iduronate sulfatase gene alterations in 70 unrelated Hunter patients

Roseline Froissart, Irène Maire, Gilles Millat, Stéphane Cudry, Anne-Marie Birot, Véronique Bonnet, Olivier Bouton, Dominique Bozon

Journal:

Clinical Genetics

Year:

1998

Language:

english

File:

PDF, 598 KB

english, 1998

8

Clinical, biochemical and molecular findings in a two-generation Morquio A family

Anna Tylki-Szymańska, Barbara Czartoryska, Susanna Bunge, Otto P van Diggelen, Wim J Kleijer, Ben JHM Poor-trims, Jan GM Huijmans, Danuta Górska

Journal:

Clinical Genetics

Year:

1998

Language:

english

File:

PDF, 3.76 MB

english, 1998

9

Applicability of LDLR flanking microsatellite polymorphisms for prenatal diagnosis of homozygous state for familial hypercholesterolemia

ER De Oliveirae Suva, L. Haddad, PO Kwiterovich Jr, SE Humphries, INM Day

Journal:

Clinical Genetics

Year:

1998

Language:

english

File:

PDF, 308 KB

english, 1998

10

Glycogen storage disease type II: identification of a dinucleotide deletion and a common missense mutation in the lysosomal α-glucosidase gene

Marian A Kroos, Dik van Leenen, Jan Verbiest, Arnold JJ Reuser, Monique MP Hermans

Journal:

Clinical Genetics

Year:

1998

Language:

english

File:

PDF, 391 KB

english, 1998

11

Mild cystic fibrosis mutations in Southern Sweden with special reference to S549I and T338I

C. Schaedel, A-M Andersson, A-C Kristoffersson, R. Kornfält, L. Lannefors, L. Holmberg

Journal:

Clinical Genetics

Year:

1998

Language:

english

File:

PDF, 307 KB

english, 1998

12

Apolipoprotein E genotypes in offspring with a positive and negative family history of premature myocardial infarction

Katarina Rašlová, Božena Smolková, Branislav Vohnout, Branislav Schifferdecker, Rudolf Poledne, Maria Dusinšká

Journal:

Clinical Genetics

Year:

1998

Language:

english

File:

PDF, 348 KB

english, 1998

13

A ‘de novo’ point mutation of the low-density lipoprotein receptor gene in an Italian subject with primary hypercholesterolemia

S. Cassanelli, S. Bertolini, M. Rolleri, F De Stefano, L. Casarino, N. Elicio, A. Naselli, S. Calandra

Journal:

Clinical Genetics

Year:

1998

Language:

english

File:

PDF, 773 KB

english, 1998

14

Genotyping of the polymorphic N-acetyltransferase (NAT2) and loss of heterozygosity in bladder cancer patients

E. Schnakenberg, Chr Ehlers, W. Feyerabend, R. Werdin, R. Hübotter, K. Dreikorn, W. Schloot

Journal:

Clinical Genetics

Year:

1998

Language:

english

File:

PDF, 1.22 MB

english, 1998

15

Partners with reciprocal translocations: genetic counseling for the ‘double translocation’

Lola Cook, James K Hartsfield Jr, Gail H Vance

Journal:

Clinical Genetics

Year:

1998

Language:

english

File:

PDF, 1.04 MB

english, 1998

16

Deletion in chromosome region 22q11 in a child with CHARGE association

Koen Devriendt, Ann Swillen, Jean-Pierre Fryns

Journal:

Clinical Genetics

Year:

1998

Language:

english

File:

PDF, 1.38 MB

english, 1998

17

Noonan syndrome associated with central giant cell granuloma

Birsen Uçar, Aysenur Ökten, Hilal Mocan, Cengiz Erçin

Journal:

Clinical Genetics

Year:

1998

Language:

english

File:

PDF, 3.21 MB

english, 1998

18

Jumping translocation with partial duplications and triplications of chromosomes 7 and 15

T. Jewett, D. Marnane, W. Stewart, R. Hayworth-Hodge, L. Finklea, K. Klinepeter, PN Rao, MJ Pettenati

Journal:

Clinical Genetics

Year:

1998

Language:

english

File:

PDF, 3.87 MB

english, 1998

19

Neuronal nitric oxide synthase, nNOS, is not linked to infantile hypertrophic pyloric stenosis in three families

Cilia Söderhäll, Agneta Nordenskjöld

Journal:

Clinical Genetics

Year:

1998

Language:

english

File:

PDF, 338 KB

english, 1998

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