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Volume 96; Issue 3
Main
Human Genetics
Volume 96; Issue 3
Human Genetics
Volume 96; Issue 3
1
Molecular basis of phenotypic variation in patients with argininemia
Takako Uchino
,
Selma E. Snyderman
,
Marie Lambert
,
Ijaz A. Qureshi
,
Stuart K. Shapira
,
Claude Sansaricq
,
Leonard M. E. Smit
,
Cornelis Jakobs
,
Ichiro Matsuda
Journal:
Human Genetics
Year:
1995
Language:
english
File:
PDF, 884 KB
Your tags:
english, 1995
2
Intracellular heteroplasmy for disease-associated point mutations in mtDNA: implications for disease expression and evidence for mitotic segregation of heteroplasmic units of mtDNA
P. M. Matthews
,
R. M. Brown
,
K. Morten
,
D. Marchington
,
J. Poulton
,
G. Brown
Journal:
Human Genetics
Year:
1995
Language:
english
File:
PDF, 868 KB
Your tags:
english, 1995
3
Characteristic chromosomal fragility of human embryonic cells exposed in vitro to aphidicolin
Daniela Caporossi
,
Patrizia Vernole
,
Benedetto Nicoletti
,
Bruna Tedeschi
Journal:
Human Genetics
Year:
1995
Language:
english
File:
PDF, 780 KB
Your tags:
english, 1995
4
Solid-phase minisequencing confirmed by FISH analysis in determination of gene copy number
Maris Laan
,
Kristiina Grön-Virta
,
Armi Salo
,
Pertti Aula
,
Leena Peltonen
,
Aarno Palotie
,
Ann-Christine Syvänen
Journal:
Human Genetics
Year:
1995
Language:
english
File:
PDF, 1.17 MB
Your tags:
english, 1995
5
The eighth component of human complement: molecular basis of C8A (C81) polymorphism
Lin Zhang
,
Christian Rittner
,
James M. Sodetz
,
Peter M. Schneider
,
Thomas Kaufmann
Journal:
Human Genetics
Year:
1995
Language:
english
File:
PDF, 751 KB
Your tags:
english, 1995
6
Confirmation of linkage to 1q21-31 in a Danish autosomal dominant juvenile-onset glaucoma family and evidence of genetic heterogeneity
Caroline Graff
,
Steen F. Urbak
,
Tord Jerndal
,
Claes Wadelius
Journal:
Human Genetics
Year:
1995
Language:
english
File:
PDF, 870 KB
Your tags:
english, 1995
7
De novo mutation in the mitochondrial ATP synthase subunit 6 gene (T8993G) with rapid segregation resulting in Leigh syndrome in the offspring
Már H. Tulinius
,
Massoud Houshmand
,
Nils-Göran Larsson
,
Elisabeth Holme
,
Anders Oldfors
,
Eva Holmberg
,
Jan Wahlström
Journal:
Human Genetics
Year:
1995
Language:
english
File:
PDF, 434 KB
Your tags:
english, 1995
8
Variation at the M235T locus of the angiotensinogen gene and essential hypertension: a population-based case-control study from Rochester, Minnesota
Myriam Fornage
,
Stephen T. Turner
,
Charles F. Sing
,
Eric Boerwinkle
Journal:
Human Genetics
Year:
1995
Language:
english
File:
PDF, 720 KB
Your tags:
english, 1995
9
Screening for mutations in exon 4 of the LDL receptor gene in a German population with severe hypercholesterolemia
Jürgen Geisel
,
Guido Holzem
,
Kurt Oette
Journal:
Human Genetics
Year:
1995
Language:
english
File:
PDF, 817 KB
Your tags:
english, 1995
10
Gene defect in hypodontia: exclusion of MSX1 and MSX2 as candidate genes
Pekka Nieminen
,
Sirpa Arte
,
Sinikka Pirinen
,
Leena Peltonen
,
Irma Thesleff
Journal:
Human Genetics
Year:
1995
Language:
english
File:
PDF, 381 KB
Your tags:
english, 1995
11
Mutations of the fibroblast growth factor receptor-3 gene in one familial and six sporadic cases of achondroplasia in Japanese patients
Shiro Ikegawa
,
Yoshimitsu Fukushima
,
Minoru Isomura
,
Fumio Takada
,
Yusuke Nakamura
Journal:
Human Genetics
Year:
1995
Language:
english
File:
PDF, 388 KB
Your tags:
english, 1995
12
Search for mutations in pancreatic sufficient cystic fibrosis Italian patients: detection of 90% of molecular defects and identification of three novel mutations
Valeria Brancolini
,
Laura Cremonesi
,
Elena Belloni
,
Emanuela Pappalardo
,
Roberta Bordoni
,
Manuela Seia
,
Silvia Russo
,
Rita Padoan
,
Annamaria Giunta
,
Maurizio Ferrari
Journal:
Human Genetics
Year:
1995
Language:
english
File:
PDF, 805 KB
Your tags:
english, 1995
13
Recurrent and novel LDL receptor gene mutations causing heterozygous familial hypercholesterolemia in La Habana
Erasmo Pereira
,
Raoul Ferreira
,
Brigitte Hermelin
,
Ginette Thomas
,
Chantal Bernard
,
Véronique Bertrand
,
Hadad Nassiff
,
Dora Mendez Castillo
,
Gilbert Bereziat
,
Pascale Benlian
Journal:
Human Genetics
Year:
1995
Language:
english
File:
PDF, 417 KB
Your tags:
english, 1995
14
RS46(DXS548) genotyping of reproductive cells: approaching preimplantation testing of the fragile-X syndrome
Jos C. F. M. Dreesen
,
Joep P. M. Geraedts
,
John C. M. Dumoulin
,
Johannes L. H. Evers
,
Math H. E. C. Pieters
Journal:
Human Genetics
Year:
1995
Language:
english
File:
PDF, 842 KB
Your tags:
english, 1995
15
A recombination event occurring within two complex 5q13.1 microsatellite repeat polymorphisms suggests a telomeric mapping of spinal muscular atrophy
Zahra Yaraghi
,
Michael D. McLean
,
Natalie Roy
,
Linda Surh
,
Joh-E. Ikeda
,
Robert G. Korneluk
,
Alex MacKenzie
Journal:
Human Genetics
Year:
1995
Language:
english
File:
PDF, 607 KB
Your tags:
english, 1995
16
Mapping of a human rRNA gene in the YAC contig surrounding the SMA candidate gene
Jana Huschenbett
,
Alexander Gasch
,
Andrea Katzer
,
Maja Affeldt
,
Astrid Speer
Journal:
Human Genetics
Year:
1995
Language:
english
File:
PDF, 508 KB
Your tags:
english, 1995
17
Characterization of a recombinant that locates the hereditary hemochromatosis gene telomeric to HLA-F
Lisa M. Calandro
,
D. M. Baer
,
G. F. Sensabaugh
Journal:
Human Genetics
Year:
1995
Language:
english
File:
PDF, 352 KB
Your tags:
english, 1995
18
A nonsense mutation (Gln-673-Term) in exon 17 of the human dystrophin gene detected by heteroduplex analysis
Anna Maria Barbieri
,
Nadia Soriani
,
Grazia M. Tubiello
,
Maurizio Ferrari
,
Paola Carrera
Journal:
Human Genetics
Year:
1995
Language:
english
File:
PDF, 249 KB
Your tags:
english, 1995
19
Investigations with fluorescence in situ hybridization (FISH) demonstrate loss of the telomeres on the reciprocal chromosome in three unbalanced translocations involving chromosome 15 in the Prader-Willi and Angelman syndromes
A. Jauch
,
L. Robson
,
A. Smith
Journal:
Human Genetics
Year:
1995
Language:
english
File:
PDF, 3.19 MB
Your tags:
english, 1995
20
Haplotype analysis of common transthyretin mutations
Maria Rosário Almeida
,
N. Aoyama-Oishi
,
Yoshiyuki Sakaki
,
Gosta Holmgren
,
Drugge Ulf
,
Alessandra Ferlini
,
Fabrizio Salvi
,
Miguel Munar-Qués
,
Merrill D. Benson
,
Martha Skinner
,
Pedro P. Costa
,
Maria Jo
Journal:
Human Genetics
Year:
1995
Language:
english
File:
PDF, 450 KB
Your tags:
english, 1995
21
Two highly polymorphic CA repeats in the Menkes gene (ATP7A)
Catherine R. Begy
,
Herman A. Dierick
,
Jeffrey W. Innis
,
Thomas W. Glover
Journal:
Human Genetics
Year:
1995
Language:
english
File:
PDF, 144 KB
Your tags:
english, 1995
22
Metachromatic leukodystrophy: a 12-bp deletion in exon 2 of the arylsulfatase A gene in a late infantile variant
Jan A. F. M. Luyten
,
Paul W. Wenink
,
Gerry C. H. Steenbergen-Spanjers
,
Ron A. Wevers
,
Hans Kristian Ploos Amstel
,
Jan G. N. Jong
,
Lambert P. W. J. Heuvel
Journal:
Human Genetics
Year:
1995
Language:
english
File:
PDF, 378 KB
Your tags:
english, 1995
23
Two further cases of mutation R1947X in the NF1 gene: screening for a relatively common recurrent mutation
Conxi Lázaro
,
Helena Kruyer
,
Antonia Gaona
,
Xavier Estivill
Journal:
Human Genetics
Year:
1995
Language:
english
File:
PDF, 453 KB
Your tags:
english, 1995
24
Mutation analysis of ten exons of the CFTR gene in Greek cystic fibrosis patients: characterization of 74.5% of CF alleles including one novel mutation
Emmanuel Kanavakis
,
Maria Tzetis
,
Thalia Antoniadi
,
Joanne Traeger-Synodinos
,
Stavros Doudounakis
,
George Adam
,
Nikos Matsaniotis
,
Christos Kattamis
Journal:
Human Genetics
Year:
1995
Language:
english
File:
PDF, 295 KB
Your tags:
english, 1995
25
The MUC5AC gene: RFLP analysis with the Jer58 probe
P. Pigny
,
W. S. Pratt
,
A. Laine
,
A. Leclercq
,
D. M. Swallow
,
V. C. Nguyen
,
J. P. Aubert
,
N. Porchet
Journal:
Human Genetics
Year:
1995
Language:
english
File:
PDF, 74 KB
Your tags:
english, 1995
26
(CGG) trinucleotide repeat polymorphism in the 5′ region of the HHR6B gene: the human homolog of the yeast DNA repair gene RAD6
Nicholas J. Lench
,
John Thompson
,
Alexander F. Markham
,
Philip A. Robinson
Journal:
Human Genetics
Year:
1995
Language:
english
File:
PDF, 180 KB
Your tags:
english, 1995
27
Locus homogeneity for cartilage-hair hypoplasia proven?
Michael Krawczak
Journal:
Human Genetics
Year:
1995
Language:
english
File:
PDF, 204 KB
Your tags:
english, 1995
28
Specification of the phenotype required for men with monoamine oxidase type A deficiency
Johannes Hebebrand
,
Birgit Klug
Journal:
Human Genetics
Year:
1995
Language:
english
File:
PDF, 508 KB
Your tags:
english, 1995
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