Results 61 to 70 of about 4,842,469 (101)

Challenges and solutions in the treatment of spinal disorders in patients with skeletal dysplasia: A comprehensive review. [PDF]

World J Methodol
Tsirikos AI, Jain A, Ahuja K.
europepmc   +1 more source

Prenatal diagnosis of achondroplasia in primary care settings - Recognising the soft markers: A case report. [PDF]

Malays Fam Physician
Wan Fadzleen Ezyani MF, Yaacob LH, Abdul Rahman R, Lau CC.   +3 more
europepmc   +1 more source

SIADH as a Rare Complication of Foramen Magnum Stenosis in an Infant With Achondroplasia. [PDF]

JCEM Case Rep
Cebeci AN, Hebert S, Reutter H, Rompel O, Woelfle J.   +4 more
europepmc   +1 more source

Vosoritide Therapy in Children with Achondroplasia: Early Experience and Practical Considerations for Clinical Practice. [PDF]

Adv Ther
Semler O, Cormier-Daire V, Lausch E, Bober MB, Carroll R, Sousa SB, Deyle D, Faden M, Hartmann G, Huser AJ, Legare JM, Mohnike K, Rohrer TR, Rutsch F, Smith P, Travessa AM, Verardo A, White KK, Wilcox WR, Hoover-Fong J.   +19 more
europepmc   +1 more source

The imperative for national legislation on rare diseases in China: A policy review and call to action. [PDF]

Intractable Rare Dis Res
Li Y, Liu Z, Huang R, Liu Y.
europepmc   +1 more source

Abstracts from the 54^th European Society of Human Genetics (ESHG) Conference: e-Posters. [PDF]

Eur J Hum Genet, 2022
europepmc   +1 more source

Approach to the Patient with Achondroplasia-New Considerations for Diagnosis, Management, and Treatment.

J Clin Endocrinol Metab
Merchant N, Hoover-Fong J, Carroll RS.
europepmc   +1 more source

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. [PDF]

Genet Med, 2015
Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL, ACMG Laboratory Quality Assurance Committee.   +12 more
europepmc   +1 more source

ECR 2020 Book of Abstracts : Vienna, Austria. 15 March 2020. [PDF]

Insights Imaging, 2020
europepmc   +1 more source

E-Posters. [PDF]

Global Spine J, 2022
europepmc   +1 more source