Results 101 to 110 of about 848 (140)

Osteogenesis Imperfecta Type II: The Lethal Newborn Form Diagnosed in the Postnatal Period. [PDF]

Cureus
Elhaddadi H, Ayyad A, Messaoudi S, Amrani R.   +3 more
europepmc   +1 more source

Multiple congenital malformations in a burrowing owl (Athene cunicularia) from Southern Brazil. [PDF]

Vet Res Commun
Comine GP, Cavalcanti EANLD, Kretschmer R, Medeiros MG, França RT.   +4 more
europepmc   +1 more source

Prenatal Diagnosis of X-Linked Chondrodysplasia Punctata 2 Presented with Calcific Stippling in Ribs and Postaxial Polydactyly Identified in the First Trimester: A Case Report. [PDF]

J Med Ultrasound
Yang YD, Dai WS, Zhang YL, Li DZ.
europepmc   +1 more source

An Imperative Role of Fetal Autopsy in Previable Fetuses - Amniotic Deformity Adhesions, Mutilations Complex. [PDF]

Matern Fetal Med
Jka HD, Ganesan N, Gurusamy U.
europepmc   +1 more source

A homozygous frameshift variant in the CILK1 gene causes cranioectodermal dysplasia. [PDF]

Eur J Hum Genet
Sezer A, Oner SS, Saat H, Turan MG, Gungor T, Cevik S, Erol A, Yenisert F, Catalbas K, Ozbakir DH, Kocagil S, Cilingir O, Ergun MA, Kaplan OI.   +13 more
europepmc   +1 more source

Novel histone deacetylase 6 gene variant is associated with fetal hydrocephalus and lateral ventriculomegaly. [PDF]

Am J Transl Res
Zhao X, Ji Q, Li X, Chen F, Jiang Y, Tian R.   +5 more
europepmc   +1 more source

Unraveling the Clinical and Genetic Landscape of Talipes Equinovarus (Clubfoot). [PDF]

Mol Syndromol
Almohrij S.
europepmc   +1 more source

Meckel Gruber Syndrome in a Nigerian child: A Case Report and Review of the Literature. [PDF]

Niger Med J
Bulus WS, JoyBaba F, AdoyiAgaba I, Raheem N.   +3 more
europepmc   +1 more source

A novel compound heterozygous variant of the COL11A1 gene in a patient with fibrochondrogenesis type I: the first case in Korea. [PDF]

Ann Pediatr Endocrinol Metab
Jeon J, Kim M, Yoo S, Kim Y, Cheon CK.
europepmc   +1 more source