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Volume 75; Issue 3
Main
Clinical Genetics
Volume 75; Issue 3
Clinical Genetics
Volume 75; Issue 3
1
Homozygous NLRP7 mutations in a Moroccan woman with recurrent reproductive failure
J Puechberty
,
C Rittore
,
L Philibert
,
G Lefort
,
G Burlet
,
P Bénos
,
L Reyftmann
,
P Sarda
,
I Touitou
Journal:
Clinical Genetics
Year:
2009
Language:
english
File:
PDF, 120 KB
Your tags:
english, 2009
2
The clinical variability of the MECP2 duplication syndrome: description of two families with duplications excluding L1CAM and FLNA
EP Kirk
,
V Malaty-Brevaud
,
N Martini
,
C Lacoste
,
N Levy
,
K Maclean
,
L Davies
,
N Philip
,
C Badens
Journal:
Clinical Genetics
Year:
2009
Language:
english
File:
PDF, 134 KB
Your tags:
english, 2009
3
Epimutation at human chromosome 14q32.2 in a boy with a upd(14)mat-like clinical phenotype
U Zechner
,
N Kohlschmidt
,
G Rittner
,
N Damatova
,
V Beyer
,
T Haaf
,
O Bartsch
Journal:
Clinical Genetics
Year:
2009
Language:
english
File:
PDF, 603 KB
Your tags:
english, 2009
4
Breast and ovarian cancer risk perception after prophylactic salpingo-oophorectomy due to an inherited mutation in the BRCA1 or BRCA2 gene
A Finch
,
K Metcalfe
,
J Lui
,
C Springate
,
R Demsky
,
S Armel
,
B Rosen
,
J Murphy
,
L Elit
,
P Sun
,
S Narod
Journal:
Clinical Genetics
Year:
2009
Language:
english
File:
PDF, 86 KB
Your tags:
english, 2009
5
Mutations in FAM20C also identified in non-lethal osteosclerotic bone dysplasia
MA Simpson
,
A Scheuerle
,
J Hurst
,
MA Patton
,
H Stewart
,
AH Crosby
Journal:
Clinical Genetics
Year:
2009
Language:
english
File:
PDF, 503 KB
Your tags:
english, 2009
6
Preimplantation genetic diagnosis in an HIV-serodiscordant couple carrier for sickle cell disease: lessons from a case report
E Gonzalez-Merino
,
V Zengbe
,
AS Vannin
,
I Place
,
A Bostan
,
S Emiliani
,
C Liesnard
,
JC Goffard
,
M Abramowicz
,
Y Englert
Journal:
Clinical Genetics
Year:
2009
Language:
english
File:
PDF, 83 KB
Your tags:
english, 2009
7
Severe phenotype with cis-acting heterozygous PMP22 mutations
D Niedrist
,
F Joncourt
,
G Mátyás
,
A Müller
Journal:
Clinical Genetics
Year:
2009
Language:
english
File:
PDF, 83 KB
Your tags:
english, 2009
8
Prevalence of dural ectasia in 63 gene-mutation-positive patients with features of Marfan syndrome type 1 and Loeys-Dietz syndrome and report of 22 novel FBN1 mutations
B Söylen
,
KK Singh
,
A Abuzainin
,
K Rommel
,
H Becker
,
M Arslan-Kirchner
,
J Schmidtke
Journal:
Clinical Genetics
Year:
2009
Language:
english
File:
PDF, 91 KB
Your tags:
english, 2009
9
Clinical and genetic analysis of the CHD7 gene in Korean patients with CHARGE syndrome
Y-W Lee
,
SC Kim
,
YL Shin
,
J-W Kim
,
HS Hong
,
YK Lee
,
C-S Ki
Journal:
Clinical Genetics
Year:
2009
Language:
english
File:
PDF, 182 KB
Your tags:
english, 2009
10
Identities and frequencies of mutations of the otoferlin gene (OTOF) causing DFNB9 deafness in Pakistan
BY Choi
,
ZM Ahmed
,
S Riazuddin
,
MA Bhinder
,
M Shahzad
,
T Husnain
,
S Riazuddin
,
AJ Griffith
,
TB Friedman
Journal:
Clinical Genetics
Year:
2009
Language:
english
File:
PDF, 325 KB
Your tags:
english, 2009
11
Role of mutational analysis in diagnosis of tuberous sclerosis complex
EA Vail
,
SK Rakowski
,
AL Numis
,
EA Thiele
Journal:
Clinical Genetics
Year:
2009
Language:
english
File:
PDF, 72 KB
Your tags:
english, 2009
12
A molecular approach for identifying individuals with Li–Fraumeni syndrome who have a limited family history
P Ang
,
IHK Lim
,
RYY Yong
,
ASG Lee
Journal:
Clinical Genetics
Year:
2009
Language:
english
File:
PDF, 185 KB
Your tags:
english, 2009
13
Noncoding RNAs in mental retardation
KE Szulwach
,
P Jin
,
RS Alisch
Journal:
Clinical Genetics
Year:
2009
Language:
english
File:
PDF, 387 KB
Your tags:
english, 2009
14
4p16.3 haplotype modifying age at onset of Huntington disease
A Nørremølle
,
E Budtz-Jørgensen
,
K Fenger
,
JE Nielsen
,
SA Sørensen
,
L Hasholt
Journal:
Clinical Genetics
Year:
2009
Language:
english
File:
PDF, 236 KB
Your tags:
english, 2009
15
Skoura – a genetic island for congenital insensitivity to pain and anhidrosis among Moroccan Jews, as determined by a novel mutation in the NTRK1 gene
C Suriu
,
M Khayat
,
M Weiler
,
N Kfir
,
C Cohen
,
A Zinger
,
C Aslanidis
,
G Schmitz
,
TC Falik-Zaccai
Journal:
Clinical Genetics
Year:
2009
Language:
english
File:
PDF, 200 KB
Your tags:
english, 2009
16
Two novel LKB1 mutations in Colombian Peutz–Jeghers syndrome patients
A Vélez
,
MH Gaitan
,
JR Marquez
,
A Castaño
,
JI Restrepo
,
S Jaramillo
,
A Gamarra
,
M Novelli
,
MM Echeverry
,
I Tomlinson
,
LG Carvajal-Carmona
Journal:
Clinical Genetics
Year:
2009
Language:
english
File:
PDF, 160 KB
Your tags:
english, 2009
17
Toriello–Carey syndrome in a patient with a de novo balanced translocation [46,XY,t(2;14)(q33;q22)] interrupting SATB2
DH Tegay
,
KK Chan
,
L Leung
,
C Wang
,
S Burkett
,
G Stone
,
R Stanyon
,
HV Toriello
,
E Hatchwell
Journal:
Clinical Genetics
Year:
2009
Language:
english
File:
PDF, 277 KB
Your tags:
english, 2009
18
A prickly cause of progressive myoclonic epilepsy
S Warby
Journal:
Clinical Genetics
Year:
2009
Language:
english
File:
PDF, 95 KB
Your tags:
english, 2009
19
Finding bald spots on chromosome 20p11
CN Doty
Journal:
Clinical Genetics
Year:
2009
Language:
english
File:
PDF, 39 KB
Your tags:
english, 2009
20
LRTOMT: a new tone in understanding the symphony of non-syndromic deafness
JM Schulze
Journal:
Clinical Genetics
Year:
2009
Language:
english
File:
PDF, 93 KB
Your tags:
english, 2009
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