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Volume 78; Issue 6
Main
Clinical Genetics
Volume 78; Issue 6
Clinical Genetics
Volume 78; Issue 6
1
Somatic mosaicism in Cornelia de Lange syndrome: a further contributor to the wide clinical expressivity?
P Castronovo
,
A Delahaye-Duriez
,
C Gervasini
,
J Azzollini
,
F Minier
,
S Russo
,
M Masciadri
,
A Selicorni
,
A Verloes
,
L Larizza
Journal:
Clinical Genetics
Year:
2010
Language:
english
File:
PDF, 705 KB
Your tags:
english, 2010
2
Parental origin of apparently balanced de novo complex chromosomal rearrangements investigated by microdissection, whole genome amplification, and microsatellite-mediated haplotype analysis
V Grossmann
,
M Höckner
,
H Karmous-Benailly
,
D Liang
,
R Puttinger
,
R Quadrelli
,
B Röthlisberger
,
A Huber
,
L Wu
,
A Spreiz
,
C Fauth
,
M Erdel
,
J Zschocke
,
G Utermann
,
D Kotzot
Journal:
Clinical Genetics
Year:
2010
Language:
english
File:
PDF, 548 KB
Your tags:
english, 2010
3
High frequency of ETFDH c.250G>A mutation in Taiwanese patients with late-onset lipid storage myopathy
M-Y Lan
,
M-H Fu
,
Y-F Liu
,
C-C Huang
,
Y-Y Chang
,
J-S Liu
,
C-H Peng
,
S-S Chen
Journal:
Clinical Genetics
Year:
2010
Language:
english
File:
PDF, 519 KB
Your tags:
english, 2010
4
Mutational spectrum in the cardiac transcription factor gene NKX2.5 (CSX) associated with congenital heart disease
B Stallmeyer
,
H Fenge
,
U Nowak-Göttl
,
E Schulze-Bahr
Journal:
Clinical Genetics
Year:
2010
Language:
english
File:
PDF, 577 KB
Your tags:
english, 2010
5
ERCC6 founder mutation identified in Finnish patients with COFS syndrome
E Jaakkola
,
A Mustonen
,
P Olsen
,
S Miettinen
,
T Savuoja
,
A Raams
,
NGJ Jaspers
,
H Shao
,
BL Wu
,
J Ignatius
Journal:
Clinical Genetics
Year:
2010
Language:
english
File:
PDF, 679 KB
Your tags:
english, 2010
6
Clinical evaluation of DFN3 patients with deletions in the POU3F4 locus and detection of carrier female using MLPA
MH Song
,
HK Lee
,
JY Choi
,
S Kim
,
J Bok
,
U-K Kim
Journal:
Clinical Genetics
Year:
2010
Language:
english
File:
PDF, 823 KB
Your tags:
english, 2010
7
Mandibulofacial dysostosis, microtia, and limb anomalies in a newborn: a new form of acrofacial dysostosis syndrome?
Y Zhang
,
Y Dai
,
Y Liu
,
J Ren
Journal:
Clinical Genetics
Year:
2010
Language:
english
File:
PDF, 606 KB
Your tags:
english, 2010
8
Ancient origin of the CTH alelle carrying the c.200C>T (p.T67I) variant in patients with cystathioninuria
C Espinós
,
A García-Cazorla
,
D Martínez-Rubio
,
E Martínez-Martínez
,
MA Vilaseca
,
B Pérez-Dueñas
,
V Kožich
,
F Palau
,
R Artuch
Journal:
Clinical Genetics
Year:
2010
Language:
english
File:
PDF, 595 KB
Your tags:
english, 2010
9
NEMO mutation as a cause of familial occurrence of Behçet's disease in female patients
H Takada
,
A Nomura
,
M Ishimura
,
M Ichiyama
,
S Ohga
,
T Hara
Journal:
Clinical Genetics
Year:
2010
Language:
english
File:
PDF, 650 KB
Your tags:
english, 2010
10
Partial paternal uniparental disomy of chromosome 6 in monozygotic twins with transient neonatal diabetes mellitus and macroglossia
S Suzuki
,
D Fujisawa
,
K Hashimoto
,
T Asano
,
M Maimaiti
,
K Matsuo
,
Y Tanahashi
,
T Mukai
,
K Fujieda
Journal:
Clinical Genetics
Year:
2010
Language:
english
File:
PDF, 512 KB
Your tags:
english, 2010
11
Improved growth and bone mineral density in type I trichorhinophalangeal syndrome in response to growth hormone therapy
K Sarafoglou
,
S Moassesfar
,
BS Miller
Journal:
Clinical Genetics
Year:
2010
Language:
english
File:
PDF, 598 KB
Your tags:
english, 2010
12
C2orf37 mutational spectrum in Woodhouse–Sakati syndrome patients
AM Alazami
,
SA Schneider
,
D Bonneau
,
L Pasquier
,
M Carecchio
,
M Kojovic
,
K Steindl
,
M De Kerdanet
,
MM Nezarati
,
KP Bhatia
,
B Degos
,
E Goh
,
FS Alkuraya
Journal:
Clinical Genetics
Year:
2010
Language:
english
File:
PDF, 589 KB
Your tags:
english, 2010
13
MicroRNA profiling of multiple osteochondromas: identification of disease-specific and normal cartilage signatures
M Zuntini
,
M Salvatore
,
E Pedrini
,
A Parra
,
F Sgariglia
,
A Magrelli
,
D Taruscio
,
L Sangiorgi
Journal:
Clinical Genetics
Year:
2010
Language:
english
File:
PDF, 845 KB
Your tags:
english, 2010
14
Mutational analysis of ABCC2 gene in two siblings with neonatal-onset Dubin Johnson syndrome
L Pacifico
,
C Carducci
,
E Poggiogalle
,
F Caravona
,
I Antonozzi
,
C Chiesa
,
G Maggiore
Journal:
Clinical Genetics
Year:
2010
Language:
english
File:
PDF, 521 KB
Your tags:
english, 2010
15
A frameshift mutation in SANS results in atypical Usher syndrome
R Bashir
,
A Fatima
,
S Naz
Journal:
Clinical Genetics
Year:
2010
Language:
english
File:
PDF, 660 KB
Your tags:
english, 2010
16
Two-hit wonder: a novel genetic model to explain variable expressivity in severe pediatric phenotypes
RA Kumar
Journal:
Clinical Genetics
Year:
2010
Language:
english
File:
PDF, 567 KB
Your tags:
english, 2010
17
SHANK2 redemption: another synaptic protein for mental retardation and autism
RA Kumar
Journal:
Clinical Genetics
Year:
2010
Language:
english
File:
PDF, 514 KB
Your tags:
english, 2010
18
No loss, no gain: how deletions in our genome contribute to early-onset obesity
RA Kumar
Journal:
Clinical Genetics
Year:
2010
Language:
english
File:
PDF, 513 KB
Your tags:
english, 2010
19
A novel C2orf37 mutation causes the first Italian cases of Woodhouse Sakati syndrome
K Steindl
,
AM Alazami
,
KP Bhatia
,
JT Wuerfel
,
D Petersen
,
R Cartolari
,
G Neri
,
C Klein
,
B Mongiardo
,
FS Alkuraya
,
SA Schneider
Journal:
Clinical Genetics
Year:
2010
Language:
english
File:
PDF, 588 KB
Your tags:
english, 2010
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