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X-linked traits

Assessment of the gut bacterial microbiome and metabolome of girls and women with Rett Syndrome

Santosh Thapa, Alamelu Venkatachalam, [ ... ], Kathleen J. Motil

Identification of a variant in NDP associated with X-linked retinal dysplasia in the English cocker spaniel dog

Hannah Joyce, Louise M. Burmeister, [ ... ], Cathryn Mellersh

Correlation between Hemophilia Early Arthropathy Detection with Ultrasound (HEAD-US) score and Hemophilia Joint Health Score (HJHS) in patients with hemophilic arthropathy

Marcel Prasetyo, Ratna Moniqa, [ ... ], Stefanus Imanuel Setiawan

Development of human hepatocellular carcinoma in X-linked severe combined immunodeficient pigs: An orthotopic xenograft model

Kohei Mishima, Osamu Itano, [ ... ], Yuko Kitagawa

Validity of bioelectrical impedance to estimate fat-free mass in boys with Duchenne muscular dystrophy

Evellyn C. Grilo, Thais A. Cunha, [ ... ], Sancha Helena L. Vale

Medical management of muscle weakness in Duchenne muscular dystrophy

Sarah R. Rivera, Sumit K. Jhamb, [ ... ], Katherine D. Mathews

Test-retest reliability of the Performance of Upper Limb (PUL) module for muscular dystrophy patients

Marta Gandolla, Alberto Antonietti, [ ... ], Alessandra Pedrocchi

Sensitive and reliable evaluation of single-cut sgRNAs to restore dystrophin by a GFP-reporter assay

Pin Lyu, Kyung Whan Yoo, [ ... ], Baisong Lu

Serum very long-chain fatty acids (VLCFA) levels as predictive biomarkers of diseases severity and probability of survival in peroxisomal disorders

Teresa Joanna Stradomska, Małgorzata Syczewska, [ ... ], Anna Tylki-Szymanska

A combination of 7-ketocholesterol, lysosphingomyelin and bile acid-408 to diagnose Niemann-Pick disease type C using LC-MS/MS

Chen Wu, Takeo Iwamoto, [ ... ], Yoshikatsu Eto

Health-related quality of life of moderate and severe haemophilia patients: Results of the haemophilia-specific quality of life index in Korea

Hee Jo Baek, Young Shil Park, [ ... ], Kun Soo Lee

Muscle weakness has a limited effect on motor control of gait in Duchenne muscular dystrophy

Ines Vandekerckhove, Nathalie De Beukelaer, [ ... ], Marije Goudriaan

The position of nonsense mutations can predict the phenotype severity: A survey on the DMD gene

Annalaura Torella, Mariateresa Zanobio, [ ... ], Vincenzo Nigro

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