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Volume 76; Issue 1
Main
Clinical Genetics
Volume 76; Issue 1
Clinical Genetics
Volume 76; Issue 1
1
Identification of critical regions for clinical features of distal 10q deletion syndrome
SA Yatsenko
,
MC Kruer
,
PI Bader
,
D Corzo
,
J Schuette
,
CE Keegan
,
B Nowakowska
,
S Peacock
,
WW Cai
,
DA Peiffer
,
KL Gunderson
,
Z Ou
,
AC Chinault
,
SW Cheung
Journal:
Clinical Genetics
Year:
2009
Language:
english
File:
PDF, 630 KB
Your tags:
english, 2009
2
Subtelomeric 1q deletion syndrome causing patella hypoplasia and limb deformities, features overlapping with genitopatellar syndrome
ACF Lam
,
KKS Lai
,
ATC Chau
,
IFM Lo
,
STS Lam
Journal:
Clinical Genetics
Year:
2009
Language:
english
File:
PDF, 240 KB
Your tags:
english, 2009
3
Identification of a new form of autosomal dominant spastic paraplegia
SH Subramony
,
TV Nguyen
,
L Langford
,
X Lin
,
AD Parent
,
J Zhang
Journal:
Clinical Genetics
Year:
2009
Language:
english
File:
PDF, 104 KB
Your tags:
english, 2009
4
Copy number variations in three children with sudden infant death
GA Toruner
,
R Kurvathi
,
R Sugalski
,
L Shulman
,
S Twersky
,
PG Pearson
,
R Tozzi
,
MN Schwalb
,
R Wallerstein
Journal:
Clinical Genetics
Year:
2009
Language:
english
File:
PDF, 437 KB
Your tags:
english, 2009
5
Multiplex ligation-dependent probe amplification analysis to screen for deletions and duplications of the LDLR gene in patients with familial hypercholesterolaemia
A Taylor
,
B Martin
,
D Wang
,
K Patel
,
SE Humphries
,
G Norbury
Journal:
Clinical Genetics
Year:
2009
Language:
english
File:
PDF, 261 KB
Your tags:
english, 2009
6
HDR (Hypoparathyroidism, Deafness, Renal dysplasia) syndrome associated to GATA3 gene duplication
L Bernardini
,
L Sinibaldi
,
A Capalbo
,
I Bottillo
,
B Mancuso
,
B Torres
,
A Novelli
,
MC Digilio
,
B Dallapiccola
Journal:
Clinical Genetics
Year:
2009
Language:
english
File:
PDF, 248 KB
Your tags:
english, 2009
7
Protracted course of juvenile ceroid lipofuscinosis associated with a novel CLN3 mutation (p.Y199X)
A Sarpong
,
G Schottmann
,
K Rüther
,
G Stoltenburg
,
A Kohlschütter
,
C Hübner
,
M Schuelke
Journal:
Clinical Genetics
Year:
2009
Language:
english
File:
PDF, 513 KB
Your tags:
english, 2009
8
Hepatic lipase promoter C-480T polymorphism is associated with serum lipids levels, but not subclinical atherosclerosis: The Cardiovascular Risk in Young Finns Study
Y-M Fan
,
OT Raitakari
,
M Kähönen
,
N Hutri-Kähönen
,
M Juonala
,
J Marniemi
,
J Viikari
,
T Lehtimäki
Journal:
Clinical Genetics
Year:
2009
Language:
english
File:
PDF, 107 KB
Your tags:
english, 2009
9
Molecular analysis of the GNPTAB and GNPTG genes in 13 patients with mucolipidosis type II or type III – identification of eight novel mutations
M Encarnação
,
L Lacerda
,
R Costa
,
MJ Prata
,
MF Coutinho
,
H Ribeiro
,
L Lopes
,
M Pineda
,
J Ignatius
,
H Galvez
,
A Mustonen
,
P Vieira
,
MR Lima
,
S Alves
Journal:
Clinical Genetics
Year:
2009
Language:
english
File:
PDF, 133 KB
Your tags:
english, 2009
10
A double homozygous mutation in the POMT1 gene involving exon skipping gives rise to Walker-Warburg syndrome in two Spanish Gypsy families
RP Cotarelo
,
O Fano
,
M Raducu
,
A Peña
,
P Tarilonte
,
F Mateos
,
R Simón
,
A Cabello
,
J Cruces
Journal:
Clinical Genetics
Year:
2009
Language:
english
File:
PDF, 703 KB
Your tags:
english, 2009
11
A child cohort study from southern Italy enlarges the genetic spectrum of hypertrophic cardiomyopathy
G Frisso
,
G Limongelli
,
G Pacileo
,
A Del Giudice
,
L Forgione
,
P Calabrò
,
M Iacomino
,
N Detta
,
LM Di Fonzo
,
V Maddaloni
,
R Calabrò
,
F Salvatore
Journal:
Clinical Genetics
Year:
2009
Language:
english
File:
PDF, 730 KB
Your tags:
english, 2009
12
Homozygous feature of isolated triphalangeal thumb–preaxial polydactyly linked to 7q36: no phenotypic difference between homozygotes and heterozygotes
CN Semerci
,
F Demirkan
,
M Özdemir
,
E Biskin
,
B Akin
,
H Bagci
,
NA Akarsu
Journal:
Clinical Genetics
Year:
2009
Language:
english
File:
PDF, 563 KB
Your tags:
english, 2009
13
Neuromuscular features in Marfan syndrome
NC Voermans
,
J Timmermans
,
N Van Alfen
,
S Pillen
,
J Op Den Akker
,
M Lammens
,
MJ Zwarts
,
IALM Van Rooij
,
BC Hamel
,
BG Van Engelen
Journal:
Clinical Genetics
Year:
2009
Language:
english
File:
PDF, 603 KB
Your tags:
english, 2009
14
Review of the Lynch syndrome: history, molecular genetics, screening, differential diagnosis, and medicolegal ramifications
HT Lynch
,
PM Lynch
,
SJ Lanspa
,
CL Snyder
,
JF Lynch
,
CR Boland
Journal:
Clinical Genetics
Year:
2009
Language:
english
File:
PDF, 678 KB
Your tags:
english, 2009
15
Dynactin mutations and promises for neurodegenerative pathology
RA Stein
Journal:
Clinical Genetics
Year:
2009
Language:
english
File:
PDF, 98 KB
Your tags:
english, 2009
16
An important risk factor in idiopathic generalized epilepsies
RA Stein
Journal:
Clinical Genetics
Year:
2009
Language:
english
File:
PDF, 50 KB
Your tags:
english, 2009
17
A new TBX gene linked to human disease
RA Stein
Journal:
Clinical Genetics
Year:
2009
Language:
english
File:
PDF, 50 KB
Your tags:
english, 2009
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