Results 91 to 100 of about 1,690 (126)

Case Report: A new <i>UBA2</i> variant in a Chinese family with aplasia cutis congenita. [PDF]

Front Med (Lausanne)
He Y, Zhu S, Wei Q, Ye F, Ouyang X, Wu L, Li C.   +6 more
europepmc   +1 more source

Midline defect with corpus callosum agenesis, vermian hypoplasia and median cleft lip palate. [PDF]

Case Rep Perinat Med
Illi C, Koenigbauer JT, Weichert A.
europepmc   +1 more source

<i>Arhgap29</i> Deficiency Directly Leads to Systemic and Craniofacial Skeletal Abnormalities. [PDF]

Int J Mol Sci
Zhang B, Pan X, Chi D, Wang Y, Ruan W, Ma J, Duan X, Huang Y.   +7 more
europepmc   +1 more source

Focal Dermal Hypoplasia with Unusual Cardiac Anomalies Presentation: A Report of Two Cases and Literature Review. [PDF]

Mol Syndromol
Bilgeç N, Gökdemir M, Balasar Ö, Bedel FM, Çaksen H.   +4 more
europepmc   +1 more source

Molecular characterization of a rare TP63 variant associated with split-hand/split-foot malformation 4 and incomplete penetrance: disruption of the p63-Dlx signaling pathway. [PDF]

BMC Genomics
Zhuang J, Li Y, Chen Y, Zhang H, Liu S, Hu M, Chen C.   +6 more
europepmc   +1 more source

Adams-Oliver Syndrome: A Clinical Diagnosis in the Genomic Era. [PDF]

Cureus
Gl S, Sharma J, Arun S, Vaidya A, Kumar A.   +4 more
europepmc   +1 more source

Intrafamilial Phenotypic Variability of the <i>FGFR1</i> p.Cys277Tyr Variant: A Case Report and Review of the Literature. [PDF]

Genes (Basel)
Szoszkiewicz A, Sowińska-Seidler A, Gruca-Stryjak K, Jamsheer A.   +3 more
europepmc   +1 more source

Clinical Features of Gollop-Wolfgang Complex in North Africa: A Case Study. [PDF]

Cureus
Lachhab A, Maroc M, Benghali Y, El Oumri AA.   +3 more
europepmc   +1 more source

Peripheral giant cell granuloma in a child with ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome: a case report. [PDF]

BMC Oral Health
Kumar A, Srivastava VK, Sonal S, Bhati V.   +3 more
europepmc   +1 more source

Outcome of Allogeneic Penetrating Limbo-Keratoplasty: A Single-Center Retrospective Cohort Study. [PDF]

J Clin Med
Horstmann ME, Schuster AK, Pfeiffer N, Wasielica-Poslednik J.   +3 more
europepmc   +1 more source