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Genetic diseases

Training strategy over architecture: A systematic ablation study for Spartina detection from aerial imagery with small geospatial datasets

Adrien Le Guillou, Manon Brehier, [ ... ], Pierre Stéphan

Therapeutic potential of haptoglobin in a murine model of sickle cell anemia

Bianca Cristina dos Santos, Magnun Nueldo Nunes dos Santos, [ ... ], Marcus Alexandre Finzi Corat

The changing landscape of Fabry disease: Impact of the inclusion of the GLA-gene in broader NGS or WES based panels on the phenotypic spectrum

Laura van Dussen, Emilie V. Albers, [ ... ], Mirjam Langeveld

Prevalence and factors associated with anemia among patients with type 2 diabetes mellitus in northeastern Thailand: A cross-sectional study

Khomsan Yooyen, Seubsiri Bunditpirom, [ ... ], Supawadee Yamsri

Double burden of malnutrition among non-pregnant women of reproductive age: Results from the National Health Survey of Panama (ENSPA) 2019

Roger Montenegro Mendoza, Flavia Fontes, [ ... ], Ilais Moreno Velásquez

Experiences of family building counseling and perceptions of reproductive technology among adults with sickle cell disease

Rachel D. Gordon, Kayla Dyson, [ ... ], Robert M. Cronin

Strengthening the National Sickle Cell Elimination Mission through universal access to point-of-care screening test

Beena Joshi, Kavitha Rajsekar, [ ... ], Shankar Prinja

Gene-transcription factor regulatory networks implicate primary cilia in the evolution of vertebrate sex determination and expand models of epigenetic regulation

Thea B. Gessler, Dean C. Adams, Nicole Valenzuela

A standardized imaging and analysis workflow for quantitative evaluation of cutaneous neurofibromas in Nf1-KO mice

Laura Fertitta, Fanny Coulpier, [ ... ], Piotr Topilko

Sickle cell disease and maternity care: A qualitative synthesis of women’s and health providers experiences

Kenneth Finlayson, Gill Moncrieff, Cath Harris, Soo Downe

Genetic yield of next-generation sequencing for detecting monogenic familial hypercholesterolemia in uzbek patients with coronary artery disease

Rano B. Alieva, Aleksandr B. Shek, [ ... ], Dilnora B. Yusupalieva

Barriers and facilitators to healthcare utilization amongst people living with sickle cell disease in the United States: A scoping review

Christina Ruan, Joyce Gyamfi, [ ... ], Emmanuel Peprah

Development and validation of a machine learning model to detect psychiatric symptoms in Huntington’s disease using speech analysis

Quang Tuan Rémy Nguyen, Hadrien Titeux, [ ... ], Anne-Catherine Bachoud-Lévi

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