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1 . Academic Journal
Once-weekly TransCon CNP (navepegritide) in children with achondroplasia (ACcomplisH): a phase 2, multicentre, randomised, double-blind, placebo-controlled, dose-escalation trialResearch in context
저자
by
Ravi Savarirayan
;
Daniel G. Hoernschemeyer
;
Merete Ljungberg
;
Yuri A. Zarate
;
Carlos A. Bacino
, et al.
소스
EClinicalMedicine, Vol 65, Iss , Pp 102258- (2023)
Full Text (ScienceDirect)
Full Text (Clinical Key)
Open Access (DOAJ)
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7 . Academic Journal
European Achondroplasia Forum guiding principles for the detection and management of foramen magnum stenosis
저자
by
Melita Irving
;
Moeenaldeen AlSayed
;
Paul Arundel
;
Geneviève Baujat
;
Tawfeg Ben-Omran
, et al.
소스
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-8 (2023)
Open Access (BioMed Central)
Open Access (DOAJ)
Web of Science
Scopus
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7 . Academic Journal
Optimising care and follow-up of adults with achondroplasia
저자
by
Svein Fredwall
;
Yana Allum
;
Moeenaldeen AlSayed
;
Inês Alves
;
Tawfeg Ben-Omran
, et al.
소스
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-10 (2022)
Open Access (BioMed Central)
Open Access (DOAJ)
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7 . Academic Journal
Optimising the diagnosis and referral of achondroplasia in Europe: European Achondroplasia Forum best practice recommendations
저자
by
Valerie Cormier-Daire
;
Moeenaldeen AlSayed
;
Inês Alves
;
Joana Bengoa
;
Tawfeg Ben-Omran
, et al.
소스
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-10 (2022)
Open Access (BioMed Central)
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7 .
Evolution of clinical and radiological presentations of spondyloepimetaphyseal dysplasia,
RPL13
‐related: Description of 11 further cases
저자
by
Francisca Díaz‐González
;
Manuel Parrón‐Pajares
;
Elsa Lucas‐Castro
;
Silvia Modamio‐HØybjØr
;
Lucia Sentchordi‐Montané
, et al.
소스
Clinical Genetics
.
Scopus
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7 .
Pycnodysostosis: A rare cause of pathological fractures and exuberant clinical manifestations in two sisters
저자
by
Marlene Sousa
;
Ana Rita Prata
;
Ana Isabel Maduro
;
Sérgio B. Sousa
;
Armando Malcata
.
소스
Joint Bone Spine
. 90:105547
Full Text (Clinical Key)
Web of Science
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7 .
The first European consensus on principles of management for achondroplasia
저자
by
Valérie Cormier-Daire
;
Tawfeg Ben-Omran
;
Zagorka Peijin
;
Christian Lampe
;
Geert Mortier
, et al.
소스
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-7 (2021)
Orphanet journal of rare diseases
Orphanet Journal of Rare Diseases
Open Access (BioMed Central)
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7 .
Congenital cutaneous ossification
저자
by
Guiomar Perez de Nanclares
;
José Carlos Cardoso
;
Katarina Kieselova
;
Sérgio B. Sousa
;
Felicidade Santiago
, et al.
소스
Journal of Paediatrics and Child Health
. 58:1262-1264
Web of Science
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7 .
Albright’s hereditary osteodystrophy: an entity to recognize
저자
by
Ana Isabel Maduro
;
André Pinto Saraiva
;
Orlando Pimenta Rodrigues
;
Marta Marques
;
Sérgio B. Sousa
, et al.
소스
Rheumatology
. 61:e356-e357
Full Text (OUP)
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7 .
Hi-C Identifies Complex Genomic Rearrangements and TAD-Shuffling in Developmental Diseases
저자
by
Wiebke Hülsemann
;
Sérgio B. Sousa
;
Seval Türkmen
;
Pedro Louro
;
Vera M. Kalscheuer
, et al.
소스
Am J Hum Genet
American journal of human genetics, vol 106, iss 6
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