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1 . Academic Journal
Lifetime impact of achondroplasia study in Europe (LIAISE): findings from a multinational observational study
저자
by
Mohamad Maghnie
;
Oliver Semler
;
Encarna Guillen-Navarro
;
Angelo Selicorni
;
Karen E. Heath
, et al.
소스
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-19 (2023)
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7 . Academic Journal
OPA1 Dominant Optic Atrophy: Diagnostic Approach in the Pediatric Population
저자
by
Natalia Arruti
;
Patricia Rodríguez-Solana
;
María Nieves-Moreno
;
Marta Guerrero-Carretero
;
Ángela del Pozo
, et al.
소스
Current Issues in Molecular Biology, Vol 45, Iss 1, Pp 465-478 (2023)
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7 . Academic Journal
NGS Custom Panel Implementation in Patients with Non-Syndromic Autism Spectrum Disorders in the Clinical Routine of a Tertiary Hospital
저자
by
Ana Karen Sandoval-Talamantes
;
Jair Antonio Tenorio-Castaño
;
Fernando Santos-Simarro
;
Carmen Adán
;
María Fernández-Elvira
, et al.
소스
Genes, Vol 14, Iss 11, p 2091 (2023)
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7 . Academic Journal
Case report: A third variant in the 5′ UTR of TWIST1 creates a novel upstream translation initiation site in a child with Saethre-Chotzen syndrome
저자
by
Francisca Diaz-Gonzalez
;
Javier M. Sacedo-Gutiérrez
;
Stephen R. F. Twigg
;
Eduardo Calpena
;
Fernando E. Carceller-Benito
, et al.
소스
Frontiers in Genetics, Vol 13 (2023)
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7 . Academic Journal
Genotypic Findings in Noonan and Non-Noonan RASopathies and Patient Eligibility for Growth Hormone Treatment
저자
by
Atilano Carcavilla
;
Ana Cambra
;
José L. Santomé
;
Verónica Seidel
;
Jaime Cruz
, et al.
소스
Journal of Clinical Medicine, Vol 12, Iss 15, p 5003 (2023)
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7 . Academic Journal
Clinical Heterogeneity and Different Phenotypes in Patients with SETD2 Variants: 18 New Patients and Review of the Literature
저자
by
Alejandro Parra
;
Rachel Rabin
;
John Pappas
;
Patricia Pascual
;
Mario Cazalla
, et al.
소스
Genes, Vol 14, Iss 6, p 1179 (2023)
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7 . Academic Journal
NOTCH1 Gene as a Novel Cause of Thoracic Aortic Aneurysm in Patients with Tricuspid Aortic Valve: Two Cases Reported
저자
by
Laura Torres-Juan
;
Yolanda Rico
;
Elena Fortuny
;
Jaume Pons
;
Rafael Ramos
, et al.
소스
International Journal of Molecular Sciences, Vol 24, Iss 10, p 8644 (2023)
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7 . Academic Journal
Variability in Phelan-McDermid Syndrome in a Cohort of 210 Individuals
저자
by
Julián Nevado
;
Sixto García-Miñaúr
;
María Palomares-Bralo
;
Elena Vallespín
;
Encarna Guillén-Navarro
, et al.
소스
Frontiers in Genetics, Vol 13 (2022)
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7 . Academic Journal
Chromosomal Microarray in Patients with Non-Syndromic Autism Spectrum Disorders in the Clinical Routine of a Tertiary Hospital
저자
by
Ana Karen Sandoval-Talamantes
;
María Ángeles Mori
;
Fernando Santos-Simarro
;
Sixto García-Miñaur
;
Elena Mansilla
, et al.
소스
Genes, Vol 14, Iss 4, p 820 (2023)
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7 . Academic Journal
Infigratinib in children with achondroplasia: the PROPEL and PROPEL 2 studies
저자
by
Ravi Savarirayan
;
Josep Maria De Bergua
;
Paul Arundel
;
Helen McDevitt
;
Valerie Cormier-Daire
, et al.
소스
Therapeutic Advances in Musculoskeletal Disease, Vol 14 (2022)
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