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1 . Academic Journal
Psychomotor Delay in a Child with FGFR3 G380R Pathogenic Mutation Causing Achondroplasia
저자
by
Mahmut C. Ergoren
;
Erdal Eren
;
Elena Manara
;
Stefano Paolacci
;
Pinar Tulay
, et al.
소스
Global Medical Genetics, Vol 08, Iss 03, Pp 100-103 (2021)
Open Access (DOAJ)
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7 . Academic Journal
Potential role of microbiome in Chronic Fatigue Syndrome/Myalgic Encephalomyelits (CFS/ME)
저자
by
Giuseppe Francesco Damiano Lupo
;
Gabriele Rocchetti
;
Luigi Lucini
;
Lorenzo Lorusso
;
Elena Manara
, et al.
소스
Scientific Reports, Vol 11, Iss 1, Pp 1-18 (2021)
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7 . Academic Journal
Mutation profile of BBS genes in patients with Bardet–Biedl syndrome: an Italian study
저자
by
Elena Manara
;
Stefano Paolacci
;
Fabiana D’Esposito
;
Andi Abeshi
;
Lucia Ziccardi
, et al.
소스
Italian Journal of Pediatrics, Vol 45, Iss 1, Pp 1-8 (2019)
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7 . Academic Journal
Recessive multiple epiphyseal dysplasia and Stargardt disease in two sisters
저자
by
Leonardo Gatticchi
;
Dominika Vešelényiová
;
Jan Miertus
;
Paolo Enrico Maltese
;
Elena Manara
, et al.
소스
Molecular Genetics & Genomic Medicine, Vol 9, Iss 4, Pp n/a-n/a (2021)
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7 . Academic Journal
A Multi-Gene Panel to Identify Lipedema-Predisposing Genetic Variants by a Next-Generation Sequencing Strategy
저자
by
Sandro Michelini
;
Karen L. Herbst
;
Vincenza Precone
;
Elena Manara
;
Giuseppe Marceddu
, et al.
소스
Journal of Personalized Medicine, Vol 12, Iss 2, p 268 (2022)
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7 . Academic Journal
Investigation on the role of biallelic variants in VEGF‐C found in a patient affected by Milroy‐like lymphedema
저자
by
Sylvain Mukenge
;
Sawan K. Jha
;
Marco Catena
;
Elena Manara
;
Veli‐Matti Leppänen
, et al.
소스
Molecular Genetics & Genomic Medicine, Vol 8, Iss 9, Pp n/a-n/a (2020)
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7 . Academic Journal
Genetic contributions to the etiology of anorexia nervosa: New perspectives in molecular diagnosis and treatment
저자
by
Stefano Paolacci
;
Aysha Karim Kiani
;
Elena Manara
;
Tommaso Beccari
;
Maria Rachele Ceccarini
, et al.
소스
Molecular Genetics & Genomic Medicine, Vol 8, Iss 7, Pp n/a-n/a (2020)
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7 . Academic Journal
Expanding the Clinical and Genetic Spectrum of RAB28-Related Cone-Rod Dystrophy: Pathogenicity of Novel Variants in Italian Families
저자
by
Giancarlo Iarossi
;
Valerio Marino
;
Paolo Enrico Maltese
;
Leonardo Colombo
;
Fabiana D’Esposito
, et al.
소스
International Journal of Molecular Sciences, Vol 22, Iss 1, p 381 (2020)
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7 . Academic Journal
Segregation Analysis of Rare NRP1 and NRP2 Variants in Families with Lymphedema
저자
by
Sandro Michelini
;
Bruno Amato
;
Maurizio Ricci
;
Sercan Kenanoglu
;
Dominika Veselenyiova
, et al.
소스
Genes, Vol 11, Iss 11, p 1361 (2020)
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7 . Academic Journal
Somatic Variant Analysis Identifies Targets for Tailored Therapies in Patients with Vascular Malformations
저자
by
Stefano Paolacci
;
Raul Ettore Mattassi
;
Giuseppe Marceddu
;
Elena Manara
;
Alessandra Zulian
, et al.
소스
Journal of Clinical Medicine, Vol 9, Iss 11, p 3387 (2020)
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