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Volume 76; Issue 4
Main
Clinical Genetics
Volume 76; Issue 4
Clinical Genetics
Volume 76; Issue 4
1
Mutational spectrum of CDKL5 in early-onset encephalopathies: a study of a large collection of French patients and review of the literature
C Nemos
,
L Lambert
,
F Giuliano
,
B Doray
,
A Roubertie
,
A Goldenberg
,
B Delobel
,
V Layet
,
MA N’guyen
,
A Saunier
,
F Verneau
,
P Jonveaux
,
C Philippe
Journal:
Clinical Genetics
Year:
2009
Language:
english
File:
PDF, 1.10 MB
Your tags:
english, 2009
2
Trisomic rescue causing reduction to homozygosity for a novel ABCA12 mutation in harlequin ichthyosis
D Castiglia
,
M Castori
,
E Pisaneschi
,
M Sommi
,
C Covaciu
,
G Zambruno
,
J Fischer
,
C Magnani
Journal:
Clinical Genetics
Year:
2009
Language:
english
File:
PDF, 665 KB
Your tags:
english, 2009
3
Molecular analysis and clinical aspects of four patients with Chédiak-Higashi syndrome (CHS)
E Scherber
,
K Beutel
,
R Ganschow
,
A Schulz
,
G Janka
,
U zur Stadt
Journal:
Clinical Genetics
Year:
2009
Language:
english
File:
PDF, 450 KB
Your tags:
english, 2009
4
Parental SCN1A mutation mosaicism in familial Dravet syndrome
KK Selmer
,
A-S Eriksson
,
K Brandal
,
T Egeland
,
C Tallaksen
,
DE Undlien
Journal:
Clinical Genetics
Year:
2009
Language:
english
File:
PDF, 514 KB
Your tags:
english, 2009
5
Dandy-Walker malformation in patients with KID syndrome associated with a heterozygote mutation (p.Asp50Asn) in the GJB2 gene encoding connexin 26
Ingo Todt
,
Juliette Mazereeuw-Hautier
,
Barbara Binder
,
Patrick J. Willems
Journal:
Clinical Genetics
Year:
2009
Language:
english
File:
PDF, 559 KB
Your tags:
english, 2009
6
Novel mutations of the CLCN5 gene including a complex allele and A 5′ UTR mutation in Dent disease 1
E Tosetto
,
M Ceol
,
F Mezzabotta
,
A Ammenti
,
L Peruzzi
,
MR Caruso
,
G Barbano
,
G Vezzoli
,
G Colussi
,
G Vergine
,
M Giordano
,
N Glorioso
,
S Degortes
,
L Soldati
,
J Sayer
,
A D'Angelo
,
F Anglani
Journal:
Clinical Genetics
Year:
2009
Language:
english
File:
PDF, 526 KB
Your tags:
english, 2009
7
An integrated strategy for the diagnosis of neuronal ceroid lipofuscinosis types 1 (CLN1) and 2 (CLN2) in eleven Latin American patients
R Kohan
,
IA Cismondi
,
R Dodelson Kremer
,
VJ Muller
,
N Guelbert
,
V Tapia Anzolini
,
MJ Fietz
,
AM Oller Ramírez
,
I Noher Halac
Journal:
Clinical Genetics
Year:
2009
Language:
english
File:
PDF, 682 KB
Your tags:
english, 2009
8
Pseudogene-derived IKBKG gene mutations in incontinentia pigmenti
N-C Lee
,
C-H Huang
,
W-L Hwu
,
Y-H Chien
,
Y-Y Chang
,
C-H Chen
,
T-M Ko
Journal:
Clinical Genetics
Year:
2009
Language:
english
File:
PDF, 537 KB
Your tags:
english, 2009
9
Hereditary hair loss and the ancient signaling pathways that regulate ectodermal appendage formation
CD Van Raamsdonk
Journal:
Clinical Genetics
Year:
2009
Language:
english
File:
PDF, 501 KB
Your tags:
english, 2009
10
Identifying mental health services in clinical genetic settings
M Cappelli
,
MJ Esplen
,
BJ Wilson
,
M Dorval
,
JL Bottorff
,
M Ly
,
JC Carroll
,
J Allanson
,
E Humphreys
,
D Rayson
Journal:
Clinical Genetics
Year:
2009
Language:
english
File:
PDF, 466 KB
Your tags:
english, 2009
11
Copy number changes of the microcephalin 1 gene (MCPH1) in patients with autism spectrum disorders
HM Ozgen
,
E Van Daalen
,
PF Bolton
,
VK Maloney
,
S Huang
,
L Cresswell
,
MJ Van Den Boogaard
,
MJ Eleveld
,
R Van‘t Slot
,
R Hochstenbach
,
FA Beemer
,
M Barrow
,
JCK Barber
,
M Poot
Journal:
Clinical Genetics
Year:
2009
Language:
english
File:
PDF, 677 KB
Your tags:
english, 2009
12
Identification of 11 novel mutations in USH2A among Japanese patients with Usher syndrome type 2
H Nakanishi
,
M Ohtsubo
,
S Iwasaki
,
Y Hotta
,
K Mizuta
,
H Mineta
,
S Minoshima
Journal:
Clinical Genetics
Year:
2009
Language:
english
File:
PDF, 716 KB
Your tags:
english, 2009
13
An ancient disorder under iron control
M Metzler
Journal:
Clinical Genetics
Year:
2009
Language:
english
File:
PDF, 609 KB
Your tags:
english, 2009
14
MicroRNAs become large in hearing loss
M Metzler
Journal:
Clinical Genetics
Year:
2009
Language:
english
File:
PDF, 613 KB
Your tags:
english, 2009
15
Diverse effects in Friedreich's ataxia place PGC-1α center-stage
M Metzler
Journal:
Clinical Genetics
Year:
2009
Language:
english
File:
PDF, 601 KB
Your tags:
english, 2009
16
Cornelia de Lange syndrome, cohesin, and beyond
J Liu
,
ID Krantz
Journal:
Clinical Genetics
Year:
2009
Language:
english
File:
PDF, 655 KB
Your tags:
english, 2009
17
Preimplantation genetic diagnosis
JPM Geraedts
,
GMWR De Wert
Journal:
Clinical Genetics
Year:
2009
Language:
english
File:
PDF, 775 KB
Your tags:
english, 2009
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