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Archives of Disease in Childhood
CLINICAL
Genetics
Genetic screening / counselling
Email alerts
Genetic screening / counselling
G331(P) Sibling-pair with Mitofusin 2 mutation
S
Jain
,
T
Willis
,
E
Wassmer
,
S
Agrawal
Archives of Disease in Childhood
Apr 2014,
99
(Suppl 1)
A136;
DOI:
10.1136/archdischild-2014-306237.314
G248(P) Growth pattern in Sickle Cell Disease (SCD) children
M
Aye
,
S
Sastry
,
P
Derbyshire
Archives of Disease in Childhood
Apr 2014,
99
(Suppl 1)
A107-A108;
DOI:
10.1136/archdischild-2014-306237.245
G45 Haematocolpos due to a transverse vaginal septum in 15 year old girl with junctional epidermolysis bullosa
L
Solman
,
JE
Mellerio
,
I
Mustaq
,
AE
Martinez
Archives of Disease in Childhood
Apr 2014,
99
(Suppl 1)
A19;
DOI:
10.1136/archdischild-2014-306237.45
Clinical and genetic aspects of hypophosphatasia in Japanese patients
Takeshi
Taketani
,
Kazumichi
Onigata
,
Hironori
Kobayashi
,
Yuichi
Mushimoto
,
Seiji
Fukuda
,
Seiji
Yamaguchi
Archives of Disease in Childhood
Mar 2014,
99
(3)
211-215;
DOI:
10.1136/archdischild-2013-305037
An incidental finding of striking muscular hypertrophy leading to a diagnosis of Berardinelli Seip Congenital Lipodystrophy
Gayle
Hann
,
Abdul
Salam
,
Piyusha
Kapila
Archives of Disease in Childhood
Dec 2013,
98
(12)
933;
DOI:
10.1136/archdischild-2013-303691
G188 The Role of Screening Investigations in Childhood Arterial Ischaemic Stroke
R
Probert
,
J
Ng
,
V
Ganesan
Archives of Disease in Childhood
Jun 2013,
98
(Suppl 1)
A85-A86;
DOI:
10.1136/archdischild-2013-304107.200
G28 A Novel Missense Mutation in Keratin 1 Underlying Clinically Mild Epidermolytic Ichthyosis Mimicking Epidermolysis Bullosa Simplex Superficialis
AI
MacKenzie
,
PJ
Dopping-Hepenstal
,
L
Ozoemena
,
L
Liu
,
K
Stone
,
MA
Simpson
,
JA
McGrath
,
AE
Martinez
,
JE
Mellerio
Archives of Disease in Childhood
Jun 2013,
98
(Suppl 1)
A17-A18;
DOI:
10.1136/archdischild-2013-304107.041
Next generation sequencing (NGS) in the UK steroid resistant nephrotic syndrome (SRNS) study reveals complex genetic heterogeneity
HJ
McCarthy
,
A
Bierzynska
,
M
Wherlock
,
GI
Welsh
,
MA
Saleem
Archives of Disease in Childhood
May 2012,
97
(Suppl 1)
A161-A162;
DOI:
10.1136/archdischild-2012-301885.379
Diagnostic efficacy of combined ultrasound and isotope thyroid scanning in infants referred with TSH elevation on newborn screening
A
Lucas-Herald
,
J
Jones
,
M
Attaie
,
S
Maroo
,
T
Bradley
,
J
Pohlenz
,
M
Donaldson
Archives of Disease in Childhood
May 2012,
97
(Suppl 1)
A121;
DOI:
10.1136/archdischild-2012-301885.288
Genetic variants implicated in airway remodelling are risk factors for asthma severity in children and young adults
J
Cunningham
,
E
Cheek
,
R
Tavendale
,
A
Mitra
,
D
MacGregor
,
CNA
Palmer
,
HE
Smith
,
S
Mukhopadhyay
,
K
Basu
Archives of Disease in Childhood
May 2012,
97
(Suppl 1)
A26;
DOI:
10.1136/archdischild-2012-301885.66
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