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7 research outputs found
Genetic testing and the phenotype of Polish patients with Unverricht–Lundborg disease (EPM1) — A cohort study
Author
Agnieszka Słowik
Amadeusz Żak
+20 more
Anetta Lasek-Bal
Anna Sułek
Canafoglia
Canafoglia
ClinVar
Crespel
de Haan
Genton
Hyppönen
Joensuu
Koskenkorva
Krysa
Kälviäinen
Lalioti
Lasek-Bal
Magaudda
Magdalena Bosak
Maria Łukasik
Mazarib
Virtaneva
Publication venue
'Elsevier BV'
Publication date
Field of study
No full text
Crossref
Understanding the personal and community impact of long QT syndrome: A perspective from Gitxsan women
Author
Alders M.
ClinVar
+14 more
Dworak C.
First Nations Health Authority
Giorgi A.
Gitxsan
Gitxsan
HeavyRunner I.
Manahan C.
McCuen‐Wurst C.
McElwaine P.
National Collaborating Centre for Aboriginal Health
Smith E.
Smith J.
Statistics Canada
Ward C.
Publication venue
'Wiley'
Publication date
Field of study
No full text
Crossref
The Impact of the Gene Variants FV Leiden, FII G20210A, MTHFR C677T and PAI-1 4G/5G on Pregnancy Loss in Women from Central Serbia
Author
ClinVar
Cunningham
+30 more
Djordević
Djordjevic
Dutra
Elezović
Ford
Isaoglu
Ivanov
Khosravi
Kovac
Kurzawińska
Li
Liatsikos
Luo
Madjunkova
Margetić
Mazzucconi
Mitic
Mitić
Mitić
Ocak
Ozdemir
Simcox LE
Sparić
Stevens
Versteeg
Wu
Đorđević
Đorđević
Đorđević
Đorđević
Publication venue
'Walter de Gruyter GmbH'
Publication date
Field of study
No full text
Crossref
Hemorrhagic, thrombotic and obstetric complications of congenital dysfibrinogenemia in a previously asymptomatic woman
Author
Bolton-Maggs
Bouvier
+20 more
ClinVar
de Moerloose
Filomena Meffe
Georgina Floros
Goldstein
Groupe Français d'’études sur l'’Hémostase et la Thrombose (GFHT)
Howard Berger
Jerry Teitel
Jillian Baker
Kalina
Korte
Michelle Sholzberg
Patil
Pavord
Rachel Martin
Suh
Wynn Peterson
Zachary Liederman
Zdziarska
Zhou
Publication venue
'Elsevier BV'
Publication date
Field of study
No full text
Crossref
Loss-of-function mutations in the CABLES1 gene are a novel cause of Cushing’s disease
Author
Aggeliki Dimopoulos
Aurelio Balsalobre
+23 more
Chiara Villa
ClinVar
Constantine A Stratakis
Denise M Kay
Fabio R Faucz
Giampaolo Trivellin
Guillaume Assié
Hernández
Jacques Drouin
James L Mills
John Lane
Jérôme Bertherat
Laura C Hernández-Ramírez
MantelAChansonP
Mario Neou
Maya B Lodish
Nathan Pankratz
Nuria Valdés
Prashant Chittiboina
Ryhem Gam
Stephan Gaillard
UniProt
Yves Gauthier
Publication venue
'Bioscientifica'
Publication date
Field of study
No full text
Crossref
Outcome associated with EPCAM founder mutation c.499dup in Qatar
Author
Al-Mayouf
AlMahamed
+40 more
Alnaqeb
Azzopardi
Cameron
ClinVar
d Apolito
Eman Hamid
Fatma Al Mudahka
Goulet
Goulet
Gulab Sher
Hamamy
Hatim Abdelrahman
Hong
Jisha Sankar
Kamal Hassan
Kellermayer
Khalid Abou Hazima
Ko
Lacaille
Lemale
Mahlah Daryaee
Markel
Muzammil Ahmad Khan
Paramesh
Pathak
Rana Shawish
Ranganathan
Reifen
Salomon
Salomon
Schnell
Shakhnovich
Sivagnanam
Sivagnanam
Sivagnanam
Tang
Thoeni
Underweight
Wesam Al-Masri
Zafar Nawaz
Publication venue
'Elsevier BV'
Publication date
Field of study
No full text
Crossref
Respiratory syncytial virus-associated mortality in a healthy 3-year-old child: a case report
Author
A Côté
A Fernández-Rodríguez
+50 more
A Vos
A. Gavotto
A. Ousselin
AA Karatza
AE Noffsinger
Anamaria Milas
AR Falsey
B Ondruschka
B. Rivière
C. Rambaud
DE Fixler
DM Jordan
DS Armstrong
Emma Matthews
G. Cambonie
H Dabbah
H Miura
I Olivotto
J. L. Pasquié
JA Moynihan
JA Thomas
JS Hutchison
K Levieux
K Thorburn
K Thorburn
KE Berge
KK Kim
Kristin M. Burns
LC Wong
M Eisenhut
M Eisenhut
M Stępień-Wojno
MC Burger
MM Hefti
MP Rubach
National Center for Biotechnology Information: ClinVar
NE Bowles
O. Pidoux
P Di Donna
P. Amedro
P. Cathala
PA Checchia
RL Donnerstein
S Esposito
S Menahem
TN James
TN James
TP Burghardt
V. Costes-Martineau
Y Kakimoto
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
Crossref