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Volume 97; Issue 3
Main
Human Genetics
Volume 97; Issue 3
Human Genetics
Volume 97; Issue 3
1
Fatal mitochondrial myopathy, lactic acidosis, and complex I deficiency associated with a heteroplasmic A→G mutation at position 3251 in the mitochondrial tRNALeu(UUR) gene
Massoud Houshmand,Nils-Göran Larsson,Anders Oldfors,Már Tulinius…
Journal:
Human Genetics
Year:
1996
Language:
english
File:
PDF, 1.11 MB
Your tags:
english, 1996
2
Relative frequency of mutations causing ornithine transcarbamylase deficiency in 78 families
Mendel Tuchman,Robert J. Plante,Miguel Angel García-Pérez…
Journal:
Human Genetics
Year:
1996
Language:
english
File:
PDF, 320 KB
Your tags:
english, 1996
3
Genetic epidemiology of congenital muscular dystrophy in a sample from north-east Italy
Maria L. Mostacciuolo,Marta Miorin,Francesco Martinello…
Journal:
Human Genetics
Year:
1996
Language:
english
File:
PDF, 351 KB
Your tags:
english, 1996
4
Fanconi anaemia complementation groups in Germany and The Netherlands
Hans Joenje
Journal:
Human Genetics
Year:
1996
Language:
english
File:
PDF, 389 KB
Your tags:
english, 1996
5
Molecular studies of the aetiology of trisomy 8 in spontaneous abortions and the liveborn population
Rowena Sarah James,Patricia Ann Jacobs
Journal:
Human Genetics
Year:
1996
Language:
english
File:
PDF, 627 KB
Your tags:
english, 1996
6
Deletion of a Gly-Pro-Pro repeat in the proα2(I) chain of procollagen I in a family with dominant osteogenesis imperfecta type IV
Allan M. Lund,Flemming Skovby,Marianne Schwartz
Journal:
Human Genetics
Year:
1996
Language:
english
File:
PDF, 657 KB
Your tags:
english, 1996
7
Inheritance of the S113L mutation within an inbred family with carnitine palmitoyltransferase enzyme deficiency
Ingrid Handig,Erna Dams,Franco Taroni,Sabine Van Laere…
Journal:
Human Genetics
Year:
1996
Language:
english
File:
PDF, 462 KB
Your tags:
english, 1996
8
Angelman syndrome in an inbred family
Joke Beuten,Raoul C. M. Hennekam,Bernadette Van Roy…
Journal:
Human Genetics
Year:
1996
Language:
english
File:
PDF, 911 KB
Your tags:
english, 1996
9
Deletions of the long arm of chromosome 10 in progression of follicular thyroid tumors
Jan Zedenius,Göran Wallin,Ann Svensson,Judith Bovée,Anders Höög…
Journal:
Human Genetics
Year:
1996
Language:
english
File:
PDF, 702 KB
Your tags:
english, 1996
10
Two different mutations are responsible for Krabbe disease in the Druze and Moslem Arab populations in Israel
Mohammad A. Rafi,Paola Luzi,Joel Zlotogora,David A. Wenger
Journal:
Human Genetics
Year:
1996
Language:
english
File:
PDF, 677 KB
Your tags:
english, 1996
11
Geographic differences in the allele frequencies of the human Y-linked tetranucleotide polymorphism DYS19
Fabrício R. Santos,Tudevdagva Gerelsaikhan,Bjamba Munkhtuja…
Journal:
Human Genetics
Year:
1996
Language:
english
File:
PDF, 546 KB
Your tags:
english, 1996
12
Cystic fibrosis in Argentina: The frequency of the ΔF508 mutation
M. C. Luna,P. A. Granados,K. Olek,O. H. Pivetta
Journal:
Human Genetics
Year:
1996
Language:
english
File:
PDF, 97 KB
Your tags:
english, 1996
13
Deletions in the SMN gene in infantile and adult spinal muscular atrophy patients from the same family
Stefania Zappata,Francesco Tiziano,Giovanni Neri,Christina Brahe
Journal:
Human Genetics
Year:
1996
Language:
english
File:
PDF, 540 KB
Your tags:
english, 1996
14
The heritability of human longevity: A population-based study of 2872 Danish twin pairs born 1870–1900
Anne Maria Herskind,Matthew McGue,Niels V. Holm…
Journal:
Human Genetics
Year:
1996
Language:
english
File:
PDF, 40 KB
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english, 1996
15
Substitution of glycine-661 by serine in the α1(I) and α2(1) chains of type I collagen results in different clinical and biochemical phenotypes
Lieve Nuytinck,Raymond Dalgleish,Loretta Spotila,Jean-Pierre Renard…
Journal:
Human Genetics
Year:
1996
Language:
english
File:
PDF, 94 KB
Your tags:
english, 1996
16
X-chromosome methylation ratios as indicators of chromosomal activity: Evidence of intraindividual divergencies among tissues of different embryonal origin
J. Azofeifa,M. Cremer,R. Waldherr
Journal:
Human Genetics
Year:
1996
Language:
english
File:
PDF, 61 KB
Your tags:
english, 1996
17
Validation of the determination of ΔF508 mutations of the cystic fibrosis gene in over 11000 mouthwashes
Hendrik G. de Vries,J. Margriet Collée,Marjan H. R. van Veldhuizen…
Journal:
Human Genetics
Year:
1996
Language:
english
File:
PDF, 20 KB
Your tags:
english, 1996
18
A (G-to-A) mutation in the initiation codon of the proteolipid protein gene causing a relatively mild form of Pelizaeus-Merzbacher disease in a Dutch family
Erik A. Sistermans,Sistermans de Wijs,Renŕ F. M. de Coo,B. A. van Oost…
Journal:
Human Genetics
Year:
1996
Language:
english
File:
PDF, 33 KB
Your tags:
english, 1996
19
Characterisation of a human serine hydroxymethyltransferase pseudogene and its localisation to 1p32.3–33
Paula C. Byrne,Janet M. Shipley,Karen J. Chave,Peter G. Sanders…
Journal:
Human Genetics
Year:
1996
Language:
english
File:
PDF, 240 KB
Your tags:
english, 1996
20
The gene for X-linked hypophosphataemic rickets maps to a 200–300 kb region in Xp22.1, and is located on a single YAC containing a putative vitamin D response element (VDRE)
P. S. N. Rowe,J. N. Goulding,T. Summerfield,J. L. H. O'Riordan…
Journal:
Human Genetics
Year:
1996
Language:
english
File:
PDF, 99 KB
Your tags:
english, 1996
21
A deletion of five nucleotides in the LICAM gene in a Japanese family with X-linked hydrocephalus
Tomoki Takechi,Jun Tohyama,Norio Sakuragawa,Takanobu Kurashige…
Journal:
Human Genetics
Year:
1996
Language:
english
File:
PDF, 52 KB
Your tags:
english, 1996
22
A new base substitution in the 5′ regulatory region of the humanAγ globin gene is linked with the βsgene
George P. Patrinos,Aphrodite Loutradi-Anagnostou,Manoussos N. Papadakis
Journal:
Human Genetics
Year:
1996
Language:
english
File:
PDF, 91 KB
Your tags:
english, 1996
23
Chromosomal localization of the human and mouse histidine decarboxylase genes by in situ hybridization. Exclusion of the HDC gene from the Prader-Willi syndrome region
Perrine Malzac,Marie-Geneviève Mattei,Jean Thibault,Gilles Bruneau
Journal:
Human Genetics
Year:
1996
Language:
english
File:
PDF, 24 KB
Your tags:
english, 1996
24
No mutations found byRETmutation scanning in sporadic and hereditary neuroblastoma
Robert M. W. Hofstra,Rein P. Stulp,Tineke Stelwagen…
Journal:
Human Genetics
Year:
1996
Language:
english
File:
PDF, 39 KB
Your tags:
english, 1996
25
Objective analysis of centromere separation
Gábor Méhes,András Tárnok,Lászó Pajor,Károly Méhes
Journal:
Human Genetics
Year:
1996
Language:
english
File:
PDF, 87 KB
Your tags:
english, 1996
26
Most cases of medium-chain acyl-CoA dehydrogenase deficiency escape detection in France
Bernard Fromenty,Abdellah Mansouri,Jean-Paul Bonnefont…
Journal:
Human Genetics
Year:
1996
Language:
english
File:
PDF, 17 KB
Your tags:
english, 1996
27
Interleukin-1 receptor antagonist allele (ILIRN*2) associated with nephropathy in diabetes mellitus
Alexandra I. F. Blakemore,Angela Cox,Ana-Maria Gonzalez…
Journal:
Human Genetics
Year:
1996
Language:
english
File:
PDF, 58 KB
Your tags:
english, 1996
28
An analysis of Xq deletions
Paola Maraschio,Rossella Tupler,Laura Barbierato,Eleonora Dainotti…
Journal:
Human Genetics
Year:
1996
Language:
english
File:
PDF, 517 KB
Your tags:
english, 1996
29
A novel mechanism for the origin of supernumerary marker chromosomes
Paola Maraschio,Rossella Tupler,Elena Rossi,Laura Barbierato…
Journal:
Human Genetics
Year:
1996
Language:
english
File:
PDF, 379 KB
Your tags:
english, 1996
30
Localization of the gene encoding the human L-glutamate transporter (GLT-1) to 11p11.2–p13 by fluorescence in situ hybridization
Setsuo Takai,Hideshi Kawakami,Takayasu Nakayama,Kiyomi Yamada…
Journal:
Human Genetics
Year:
1996
Language:
english
File:
PDF, 218 KB
Your tags:
english, 1996
31
High resolution multicolor fluorescence in situ hybridization using cyanine and fluorescein dyes: Rapid chromosome identification by directly fluorescently labeled alphoid DNA probes
Yuri B. Yurov,Ilia V. Soloviev,Svetlana G. Vorsanova,Bertrand Marcais…
Journal:
Human Genetics
Year:
1996
Language:
english
File:
PDF, 253 KB
Your tags:
english, 1996
32
Integration of four genes, a pseudogene, thirty-one STSs, and a highly polymorphic STRP into the 7–10 Mb YAC contig of 5q34–q35
Markus Kostrzewa,Deborah L. Grady,Robert K. Moyzis,Lars Flöter…
Journal:
Human Genetics
Year:
1996
Language:
english
File:
PDF, 84 KB
Your tags:
english, 1996
33
Localization and ordering of acid alpha-glucosidase (GAA) and thymidine kinase (TK1) by fluorescence in situ hybridization
Wen-Lin Kuo,Rochelle Hirschhorn,Maryann L. Huie,Kurt Hirschhorn
Journal:
Human Genetics
Year:
1996
Language:
english
File:
PDF, 99 KB
Your tags:
english, 1996
34
A novel missense mutation in the thyroid hormone receptor β gene in a kindred with resistance to thyroid hormone
Hiromichi Kijima,Mitsumasa Kubo,Tatsuya Ishizuka,Mitsuaki Kakinuma…
Journal:
Human Genetics
Year:
1996
Language:
english
File:
PDF, 41 KB
Your tags:
english, 1996
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