Results 61 to 70 of about 698 (166)

Fetal Skeletal Dysplasias that Involve the Face: Binder Syndrome and Nager Syndrome. [PDF]

Maedica (Bucur), 2021
Veduta A, Duta S, Ciobanu AM, Botezatu R, Gica N, Peltecu G, Panaitescu AM.   +6 more
europepmc   +1 more source

First case report of Nager syndrome patient from Georgia. [PDF]

SAGE Open Med Case Rep, 2022
Tkemaladze T, Bregvadze K, Kvaratskhelia E, Kapoor MA, Orjonikidze N, Abzianidze E.   +5 more
europepmc   +1 more source

Changes in skeletal dysplasia nosology. [PDF]

Rom J Morphol Embryol, 2021
Jurcă MC, Jurcă SI, Mirodot F, Bercea B, Severin EM, Bembea M, Jurcă AD.   +6 more
europepmc   +1 more source

Possible autosomal recessive inheritance in a neonate with Nager syndrome: Case report. [PDF]

Ann Med Surg (Lond), 2021
Ibrahim R, Eid N.
europepmc   +1 more source

Prenatal features of mandibulofacial dysostosis Guion-Almeida Type. [PDF]

J Med Life, 2021
Dragoi V, Nedelea F, Gica N, Botezatu R, Peltecu G, Panaitescu AM.   +5 more
europepmc   +1 more source

Bilateral Perthes Masking Morquio Disease. [PDF]

J Orthop Case Rep, 2021
Flores-Navarro H, Colmenares-Bonilla D.
europepmc   +1 more source

Skeletal Dysplasias of the Human Fetus: Postmortem Diagnosis [PDF]

, 2012
Anastasia Konstantinidou
core   +2 more sources

Zebrafish Models for Human Skeletal Disorders. [PDF]

Front Genet, 2021
Marí-Beffa M, Mesa-Román AB, Duran I.
europepmc   +1 more source

Short stature, dysostosis multiplex and storage disorder: mucolipidosis II. [PDF]

BMJ Case Rep, 2023
Kaur J, Saini AG, Gunasekaran PK, Bhatia A.   +3 more
europepmc   +1 more source

Prenatal Ultrasound and Genetic Diagnosis of <i>EFTUD2</i> Haploinsufficiency in Two Fetuses: A Case Series. [PDF]

Appl Clin Genet
Kucińska A, Dudarewicz L, Nowakowska BA, Geremek M, Wysocka U, Przesór Ł, Barańska D, Grzelak P, Gach A.   +8 more
europepmc   +1 more source