books search
books
articles search
articles
Donate
Log In
Log In
to access more features
personal recommendations
Telegram Bot
download history
send to Email or Kindle
manage booklists
save to favorites
Explore
Journals
Contribution
Donate
Litera Library
Donate paper books
Add paper books
Open LITERA Point
Volume 93; Issue 4
Main
Human Genetics
Volume 93; Issue 4
Human Genetics
Volume 93; Issue 4
1
Heterogeneity in the severity of cystic fibrosis and the role of CFTR gene mutations
Michael Dean
,
George Santis
Journal:
Human Genetics
Year:
1994
Language:
english
File:
PDF, 589 KB
Your tags:
english, 1994
2
Neuropsychological and biochemical investigations in heterozygotes for phenylketonuria during ingestion of high dose aspartame (a sweetener containing phenylalanine)
Friedrich Trefz
,
Leo Sonneville
,
Peter Matthis
,
Christian Benninger
,
Brigitte Lanz-Englert
,
Horst Bickel
Journal:
Human Genetics
Year:
1994
Language:
english
File:
PDF, 615 KB
Your tags:
english, 1994
3
Amplification of (GACA)nsimple repeats in an exceptional 14p+ marker chromosome
M. Schmid
,
I. Nanda
,
C. Steinlein
,
J. T. Epplen
Journal:
Human Genetics
Year:
1994
Language:
english
File:
PDF, 2.84 MB
Your tags:
english, 1994
4
Chromosomal localization of human satellites 2 and 3 by a FISH method using oligonucleotides as probes
Ignacio Tagarro
,
Antonia M. Fernández-Peralta
,
Juan J. González-Aguilera
Journal:
Human Genetics
Year:
1994
Language:
english
File:
PDF, 623 KB
Your tags:
english, 1994
5
SRVX, a sex reversing locus in Xp21.2→p22.11
Pamela Arn
,
Harold Chen
,
Cathy M. Tuck-Muller
,
Carl Mankinen
,
Gwendolyn Wachtel
,
Shibo Li
,
C. -C. Shen
,
Stephen S. Wachtel
Journal:
Human Genetics
Year:
1994
Language:
english
File:
PDF, 717 KB
Your tags:
english, 1994
6
Differential ultrastructural aberrations of collagen fibrils in Ehlers-Danlos syndrome types I–IV as a means of diagnostics and classification
Ingrid Hausser
,
Ingrun Anton-Lamprecht
Journal:
Human Genetics
Year:
1994
Language:
english
File:
PDF, 1.68 MB
Your tags:
english, 1994
7
Pure hereditary spastic paraparesis: an exclusion map covering more than 40% of the autosomal genome
Judith C. T. Deutekom
,
Richard P. M. Bruyn
,
Nicolle Boom
,
Lodewijk A. Sandkuijl
,
George W. Padberg
,
Rune R. Frants
Journal:
Human Genetics
Year:
1994
Language:
english
File:
PDF, 537 KB
Your tags:
english, 1994
8
Single exon mutation in arylsulfatase A gene has two effects: loss of enzyme activity and aberrant splicing
Yoriyasu Hasegawa
,
Hiroshi Kawame
,
Hiroyuki Ida
,
Toya Ohashi
,
Yoshikatsu Eto
Journal:
Human Genetics
Year:
1994
Language:
english
File:
PDF, 955 KB
Your tags:
english, 1994
9
Incidence of chromosome 18 disomy in human sperm nuclei as detected by nonisotopic in situ hybridization
Martina Guttenbach
,
Renate Schakowski
,
Michael Schmid
Journal:
Human Genetics
Year:
1994
Language:
english
File:
PDF, 505 KB
Your tags:
english, 1994
10
Prenatal diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency by allele-specific hybridization and Southern blot
Phyllis W. Speiser
,
Perrin C. White
,
Jacob Dupont
,
Deguang Zhu
,
Arlene B. Mercado
,
Maria I. New
Journal:
Human Genetics
Year:
1994
Language:
english
File:
PDF, 593 KB
Your tags:
english, 1994
11
Retrospective study of the cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in Guthrie cards from a large cohort of neonatal screening for cystic fibrosis
C. Verlingue
,
B. Mercier
,
I. Lecoq
,
M. P. Audrézet
,
D. Laroche
,
G. Travert
,
C. Férec
Journal:
Human Genetics
Year:
1994
Language:
english
File:
PDF, 707 KB
Your tags:
english, 1994
12
Direct screening of a mitochondrial DNA deletion valuable for Amerindian evolutionary research
Maria Santos
,
Ramiro Barrantes
Journal:
Human Genetics
Year:
1994
Language:
english
File:
PDF, 266 KB
Your tags:
english, 1994
13
Identification of allele-specific p22-phoxmutations in a compound heterozygous patient with chronic granulomatous disease by mismatch PCR and restriction enzyme analysis
Johann Peter Hossle
,
Martin Boer
,
Reinhard A. Seger
,
Dirk Roos
Journal:
Human Genetics
Year:
1994
Language:
english
File:
PDF, 968 KB
Your tags:
english, 1994
14
Unusual genotypes in the COL6A1 gene in parents of children with trisomy 21 and major congenital heart defects
Gail E. Davies
,
Catherine M. Howard
,
Mathew J. Farrer
,
Michelle M. Coleman
,
Louise M. Cullen
,
Robert Williamson
,
Richard K. H. Wyse
,
Anna M. Kessling
Journal:
Human Genetics
Year:
1994
Language:
english
File:
PDF, 424 KB
Your tags:
english, 1994
15
Analysis of the CFTR gene confirms the high genetic heterogeneity of the Spanish population: 43 mutations account for only 78% of CF chromosomes
Miguel Chillón
,
Teresa Casals
,
Javier Giménez
,
M. Dolores Ramos
,
Ana Palacio
,
Nuria Morral
,
Xavier Estivill
,
Virginia Nunes
Journal:
Human Genetics
Year:
1994
Language:
english
File:
PDF, 518 KB
Your tags:
english, 1994
16
Exclusion mapping of the gene for X-linked neural tube defects in an Icelandic family
F. A. Hol
,
M. P. A. Geurds
,
O. Jensson
,
B. C. J. Hamel
,
G. E. Moore
,
R. Newton
,
E. C. M. Mariman
Journal:
Human Genetics
Year:
1994
Language:
english
File:
PDF, 484 KB
Your tags:
english, 1994
17
ASau3A polymorphism in the 5′ end of the IT15 gene that nonrandomly segregates with the Huntington disease trinucleotide expansion
Leon Carlock
,
Kristin Gutridge
,
Trieu Vo
Journal:
Human Genetics
Year:
1994
Language:
english
File:
PDF, 424 KB
Your tags:
english, 1994
18
Mutational analysis of the amyloid precursor protein gene in Japanese familial Alzheimer's disease kindreds
Hiroto Fujigasaki
,
Satoshi Naruse
,
Kiyotoshi Kaneko
,
Hideto Hirasawa
,
Shoji Tsuji
,
Tadashi Miyatake
Journal:
Human Genetics
Year:
1994
Language:
english
File:
PDF, 310 KB
Your tags:
english, 1994
19
A patient with an interstitial deletion in Xp22.3 locates the gene for X-linked recessive chondrodysplasia punctata to within a one megabase interval
Albrecht Klink
,
Alfons Meindl
,
Heide Hellebrand
,
Gudrun A. Rappold
Journal:
Human Genetics
Year:
1994
Language:
english
File:
PDF, 797 KB
Your tags:
english, 1994
20
Analysis of the whole CFTR coding regions and splice junctions in azoospermic men with congenital bilateral aplasia of epididymis or vas deferens
Jean-Francois Culard
,
Marie Desgeorges
,
Pierre Costa
,
Maguelone Laussel
,
Gaby Razakatzara
,
Henri Navratil
,
Jacques Demaille
,
Mireille Claustres
Journal:
Human Genetics
Year:
1994
Language:
english
File:
PDF, 304 KB
Your tags:
english, 1994
21
Familial unbalanced translocation t(8;15)(p23.3;q11) with uniparental disomy in Angelman syndrome
A. Smith
,
Z. -M. Deng
,
R. Beran
,
T. Woodage
,
R. J. Trent
Journal:
Human Genetics
Year:
1994
Language:
english
File:
PDF, 778 KB
Your tags:
english, 1994
22
PstI identifies biallelic DNA polymorphism of the human casein kinase 2α gene (CSNK2A1)
S. Singh
,
I. Jantke
,
M. Simon
,
I. Meybohm
,
B. Boldyreff
,
O. Issinger
,
H. W. Goedde
Journal:
Human Genetics
Year:
1994
Language:
english
File:
PDF, 167 KB
Your tags:
english, 1994
23
Two new polymorphisms in the human elastin gene (ELN)
Mark C. Raybould
,
Andrew J. Birley
,
Maj Hulten
Journal:
Human Genetics
Year:
1994
Language:
english
File:
PDF, 231 KB
Your tags:
english, 1994
24
Polymorphism of the gene encoding the alpha subunit of the stimulatory G-protein of adenylyl cyclase (GNAS1)
Claire Waltman
,
Michael A. Levine
,
William F. Schwindinger
,
Gary S. Wand
Journal:
Human Genetics
Year:
1994
Language:
english
File:
PDF, 179 KB
Your tags:
english, 1994
25
A polymorphic STS in intron 44 of the dystrophin gene
Lau A. J. Blonden
,
Gisela M. Terwindt
,
Johan T. Dunnen
,
Gert-Jan B. Ommen
Journal:
Human Genetics
Year:
1994
Language:
english
File:
PDF, 247 KB
Your tags:
english, 1994
26
AnRsaI polymorphism in the transcribed region of the neurofibromatosis (NF1)-gene
Sven Hoffmeyer
,
Günter Assum
Journal:
Human Genetics
Year:
1994
Language:
english
File:
PDF, 113 KB
Your tags:
english, 1994
27
Transferrin types and expression of hereditary hemochromatosis
C. Sikström
,
B. Ritter
,
A. Beckman
,
L. Beckman
Journal:
Human Genetics
Year:
1994
Language:
english
File:
PDF, 213 KB
Your tags:
english, 1994
28
Verification of the transthyretin met 111 mutation in familial amyloid cardiomyopathy of Danish origin by DNA sequening
Bjørn-Yngvar Nordvåg
,
Hilde Monica Frostad Riise
,
Gunnar Husby
Journal:
Human Genetics
Year:
1994
Language:
english
File:
PDF, 317 KB
Your tags:
english, 1994
29
Announcements
Journal:
Human Genetics
Year:
1994
Language:
english
File:
PDF, 80 KB
Your tags:
english, 1994
1
Follow
this link
or find "@BotFather" bot on Telegram
2
Send /newbot command
3
Specify a name for your chatbot
4
Choose a username for the bot
5
Copy an entire last message from BotFather and paste it here
×
×