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
Personal
Book Requests
Explore
Journals
Contribution
Donate
Litera Library
Donate paper books
Add paper books
Open LITERA Point
Volume 64; Issue 6
Main
Clinical Genetics
Volume 64; Issue 6
Clinical Genetics
Volume 64; Issue 6
1
Predictive testing for persons at risk for homozygosity for CAG expansion in the Huntington disease gene
F. Squitieri
,
E.W. Almqvist
,
M. Cannella
,
G. Cislaghi
,
M.R. Hayden
Journal:
Clinical Genetics
Year:
2003
Language:
english
File:
PDF, 51 KB
Your tags:
english, 2003
2
Mutational analysis of forkhead transcriptional factor 2 (FOXL2) in Korean patients with blepharophimosis–ptosis–epicanthus inversus syndrome
SC Cha
,
YS Jang
,
JH Lee
,
HK Kim
,
SC Kim
,
S Kim
,
S-H Baek
,
WS Jung
,
J-R Kim
Journal:
Clinical Genetics
Year:
2003
Language:
english
File:
PDF, 1012 KB
Your tags:
english, 2003
3
Intronic L1 insertion and F268S, novel mutations in RPS6KA3 (RSK2) causing Coffin–Lowry syndrome
I Martínez-Garay
,
MJ Ballesta
,
S Oltra
,
C Orellana
,
A Palomeque
,
MD Moltó
,
F Prieto
,
F Martínez
Journal:
Clinical Genetics
Year:
2003
Language:
english
File:
PDF, 371 KB
Your tags:
english, 2003
4
Autosomal dominant velopharyngeal insufficiency: father-to-son transmission confirmed
P. Kannu
,
S. Aftimos
,
I. Winship
Journal:
Clinical Genetics
Year:
2003
Language:
english
File:
PDF, 48 KB
Your tags:
english, 2003
5
Ring Y chromosome in an azoospermic male with short stature: additional evidence for a distinct ring Y syndrome in non-mosaic patients?
D Gisselsson
,
U Kristoffersson
,
A Giwercman
Journal:
Clinical Genetics
Year:
2003
Language:
english
File:
PDF, 881 KB
Your tags:
english, 2003
6
Elevated frequencies of the 35delG allele of the connexin 26 gene in Corsica, France
G Lucotte
,
A Pinna
Journal:
Clinical Genetics
Year:
2003
Language:
english
File:
PDF, 57 KB
Your tags:
english, 2003
7
Chromosome 2 deletion encompassing the MAP2 gene in a patient with autism and Rett-like features
C Pescucci
,
I Meloni
,
M Bruttini
,
F Ariani
,
I Longo
,
F Mari
,
R Canitano
,
G Hayek
,
M Zappella
,
A Renieri
Journal:
Clinical Genetics
Year:
2003
Language:
english
File:
PDF, 279 KB
Your tags:
english, 2003
8
Frequency of three BRCA1 gene founder mutations in breast/ovarian cancer families from the Pomerania–Kujawy region of Poland
H Janiszewska
,
O Haus
,
A Lauda-Świeciak
,
M Pasińska
,
R Laskowski
,
W Szymański
,
B Górski
,
J Lubiński
Journal:
Clinical Genetics
Year:
2003
Language:
english
File:
PDF, 174 KB
Your tags:
english, 2003
9
Mutation spectrum and polymorphisms in ATP7B identified on direct sequencing of all exons in Chinese Han and Hui ethnic patients with Wilson's disease
Y-H Gu
,
H Kodama
,
S-L Du
,
Q-J Gu
,
H-J Sun
,
H Ushijima
Journal:
Clinical Genetics
Year:
2003
Language:
english
File:
PDF, 97 KB
Your tags:
english, 2003
10
Unmasking Kabuki syndrome: chromosome 8p22–8p23.1 duplication revealed by comparative genomic hybridization and BAC-FISH
JM Milunsky
,
XL Huang
Journal:
Clinical Genetics
Year:
2003
Language:
english
File:
PDF, 15.23 MB
Your tags:
english, 2003
11
Involvement of gene–diet/drug interaction in DNA methylation and its contribution to complex diseases: from cancer to schizophrenia
SM Singh
,
B Murphy
,
R O'Reilly
Journal:
Clinical Genetics
Year:
2003
Language:
english
File:
PDF, 126 KB
Your tags:
english, 2003
12
Notch signaling in development and disease
JA Harper
,
JS Yuan
,
JB Tan
,
I Visan
,
CJ Guidos
Journal:
Clinical Genetics
Year:
2003
Language:
english
File:
PDF, 407 KB
Your tags:
english, 2003
13
Erratum
Journal:
Clinical Genetics
Year:
2003
File:
PDF, 27 KB
Your tags:
2003
14
A reversal of fate? Left-right asymmetry, the inversin gene and childhood renal cystic disease
B Haigh
Journal:
Clinical Genetics
Year:
2003
Language:
english
File:
PDF, 553 KB
Your tags:
english, 2003
15
Another gene to screen in polyposis disorders?
B Haigh
Journal:
Clinical Genetics
Year:
2003
Language:
english
File:
PDF, 553 KB
Your tags:
english, 2003
16
Broadening the spectrum of genetic disease mechanisms: making (anti)sense out of α-thalassemia
EJ Slow
Journal:
Clinical Genetics
Year:
2003
Language:
english
File:
PDF, 553 KB
Your tags:
english, 2003
17
Index
Journal:
Clinical Genetics
Year:
2003
File:
PDF, 146 KB
Your tags:
2003
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
×
×