Results 111 to 120 of about 11,039 (220)
OP021: Vosoritide for children with achondroplasia: Growth velocity and pubertal milestones [PDF]
, 2022 Melita Irving +17 more
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Non‐invasive prenatal diagnosis of achondroplasia and thanatophoric dysplasia: next‐generation sequencing allows for a safer, more accurate, and comprehensive approach [PDF]
, 2015 Lyn S. Chitty +6 more
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Weight for age charts for children with achondroplasia [PDF]
, 2007 Julie Hoover‐Fong +4 more
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Fgfr3 enhancer deletion markedly improves all skeletal features in a mouse model of achondroplasia
The Journal of Clinical InvestigationAchondroplasia, the most prevalent short-stature disorder, is caused by missense variants overactivating the fibroblast growth factor receptor 3 (FGFR3).
Marco Angelozzi +6 more
doaj +1 more source
Coronary disease and aortopathy in achondroplasia
, 2023 Borislav Dolamić +5 more
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Lower Back Pain Heralding Cauda Equina Syndrome in a Patient With Achondroplasia [PDF]
, 2022 Ting‐Yu Lin +4 more
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Successful Delivery in a Woman With Achondroplasia: A Case Report
Acta Medica Iranica, 2017 Achondroplasia is an autosomal dominant disease which is characterized by limb shortening and narrow trunk, and macrocephaly. Women with achondroplasia suffer from infertility, menorrhagia, dysmenorrhoea, leiomyomata and early menopause.
Mahbooheh Shirazi +2 more
doaj
189 Enablement; supporting children with achondroplasia using a multidisciplinary approach [PDF]
Cafer Gurbuz Ali +4 more
openalex +1 more source