Results 101 to 110 of about 1,239 (147)

Clinical Utility of NGS-Based Diagnosis in Primary Ciliary Dyskinesia: Experience from a Brazilian Pediatric Cohort at a Reference Center for Rare Diseases. [PDF]

Genes (Basel)
Costa PFBM, Fins DFFM, de Oliveira Moraes I, Folescu TW, Cohen RWF, Chaves Rabelo N, Azevedo Barreto L, Vieira da Cunha Moreira J, Barbosa Abdala B, Naccarato Teixeira Lopes Andrade M, Llerena J, Horovitz D, Gomes ME, Gonzalez S.   +13 more
europepmc   +1 more source

Automated segmentation and length measurement of metacarpal and phalangeal bones for hand radiograph evaluation. [PDF]

Sci Rep
Gutberlet P, Kirchhoff A, Bolmer E, Schmidt P, Hellmann F, Grün J, Hustinx A, André E, Schultz T, Mohnike K, Krawitz P, Javanmardi B.   +11 more
europepmc   +1 more source

Real-world growth outcomes of vosoritide in children with achondroplasia: a single-center cohort study. [PDF]

J Endocr Soc
Regev R, Waksman Y, Cohen-Sela E, Brener A, Dechovich N, Gal M, Borger O, Zeitlin L, Lebenthal Y.   +8 more
europepmc   +1 more source

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

Acute arterial ischemic stroke in children: single-center experience. [PDF]

Arq Neuropsiquiatr
Bostancı M, Ekici A, Havalı C.
europepmc   +1 more source

Skeletal dysplasia and growth disorder with <i>SEC23A</i> p.Arg716Cys variant-related cranio-lenticulo-sutural dysplasia. [PDF]

Clin Pediatr Endocrinol
Yagasaki H, Narusawa H, Watanabe D, Nagata M, Yonei A, Asano Y, Aoyagi K, Inukai T.   +7 more
europepmc   +1 more source

A homozygous variant in <i>FGFR3</i> causing lethal skeletal dysplasia. [PDF]

Sudan J Paediatr
Rahbeeni Z, Al-Shahrani H, Noon M, Mohamed S.   +3 more
europepmc   +1 more source

C-Type Natriuretic Peptide Derivatives: Orthopaedic Implications in Achondroplasia. [PDF]

J Pediatr Soc North Am
Qian E, Chen K, Montoya R, Sabharwal S.
europepmc   +1 more source

Prenatal diagnosis of achondroplasia and hypochondroplasia using three-dimensional computed tomography: a case series at a single institution. [PDF]

Quant Imaging Med Surg
Waratani M, Hasegawa T, Shimura K, Tanaka Y, Ito F, Takahata A, Mori T.   +6 more
europepmc   +1 more source

Five-year outcomes of next-generation sequencing implementation at a Brazilian public health system reference centre for rare diseases. [PDF]

Front Genet
Rabelo NC, Gomes ME, de Moraes IC, Abdala BB, Junior DC, Barth A, Correia P, Vieira DKR, Rolemberg F, Gomes N, Magalhães TSPC, Horovitz DDG, Llerena JC, Gonzalez S.   +13 more
europepmc   +1 more source