Results 131 to 140 of about 1,372 (198)

Low-Set Ears: A New Marker of Fetal Chromosomal Anomalies. [PDF]

Fetal Diagn Ther
Baldrich-Martin E, Jalencas G, Mazano I, Lesmes-Heredia C, Manresa-Dominguez JM, Iniguez-Cruz M, Ferreres JC, Beltran V, Borrell A.   +8 more
europepmc   +1 more source

Salt-losing syndrome as a mimicker of the Nephroprotective effect of Gliflozins in Proteinuric nephropathies. [PDF]

Oxf Med Case Reports
Romano G, Nicholas F, Colussi G.
europepmc   +1 more source

Identification of novel TCOF1 mutations in Treacher Collins syndrome and their functional characterization. [PDF]

Orphanet J Rare Dis
Chen Y, Yang R, Chen X, Zhang T, Li C, Ma J.   +5 more
europepmc   +1 more source

A rare case of unilateral parotid gland agenesis. [PDF]

Radiol Case Rep
Soltani K, Taghdiri M, Keshavarz E, Kanani P.   +3 more
europepmc   +1 more source

Pleiotropic genes linking congenital hypogonadotropic hypogonadism and cleft lip/palate: evidence from a genomic CHH cohort study. [PDF]

Eur J Hum Genet
Correa FA, Habibi I, Zhai J, Adamo M, Wang Y, Boizot A, Zouaghi Y, Rauch A, Pekic S, Quinton R, Bonomi M, Cangiano B, Dhillo WS, Fluck CE, Nemeth A, Bouloux PM, Ferrara JM, Pignatelli D, Halász Z, Perdices-Lopez C, Messina A, Niederländer NJ, Santoni F, Acierno JS, Pitteloud N.   +24 more
europepmc   +1 more source

Outcomes of Bonebridge Implantation in 10 Patients with Rare Genetic Syndromes and Difficult Anatomy. [PDF]

J Clin Med
Cywka KB, Skarzynski PH, Czaplicka EA, Skarzynski H.   +3 more
europepmc   +1 more source

Integrating imaging and genomics in prenatal Treacher Collins syndrome: evidence for practice and policy. [PDF]

Orphanet J Rare Dis
Li C, Huang W, Gan Z, Ling Y, Qiu L, Xiao Y, Xiong F, Yang F.   +7 more
europepmc   +1 more source

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Anatomical abnormalities in mandibulofacial dysostosis

American Journal of Medical Genetics Part A, 1979
AbstractA detailed dissection of the head and neck of a 7‐month‐old boy with mandibulofacial dysostosis is described and compared with other reported cases. A general growth retardation was found in the bones of the basicranium and calvaria as well as the face.
Susan W Herring, S Pruzansky
exaly   +3 more sources

Mandibulofacial dysostosis with microcephaly: An expansion of the phenotype via parental survey [PDF]

American Journal of Medical Genetics, Part A, 2021
Katherine Abell, Robert J Hopkin, Kelly Smallwood   +2 more
exaly   +2 more sources