Results 151 to 160 of about 12,560 (202)

Heart failure caused by Opitz syndrome: a case report and literature review. [PDF]

BMC Cardiovasc Disord
Wang Y, Wu X, Wang K.
europepmc   +1 more source

Early cleft lip repair in an infant with cleft lip-palate and ipsilateral microtia identified through a community outreach program. [PDF]

J Surg Case Rep
Budi AS, Pranindita KA.
europepmc   +1 more source

Clinical and genetic characterization of patients with Digeorge syndrome: a single-center, first report from Sudan. [PDF]

BMC Pediatr
Khalid R, Mohammed SMH, Fadl-Elmula I.
europepmc   +1 more source

A Novel <i>MAP3K7</i> Variant Causing Loss of Function Identified in a Family With Cardiospondylocarpofacial Syndrome: Functional Validation and Molecular Insights. [PDF]

Hum Mutat
Zhu T, Shi J, Li J, Zhou T, Fu X, Xu F, Gu C, Wang D, Wu R, Liu L, Shen J, Wang D.   +11 more
europepmc   +1 more source

Neuronal Heterotopy in a Patient with Wiedemann-Steiner Syndrome Caused by a Truncating <i>KMT2A</i> Variant: Clinical and Genetic Correlations. [PDF]

Reports (MDPI)
Sokolova T, Ivanov H, Panova M, Sotkova-Ivanova I, Stoyanova V.   +4 more
europepmc   +1 more source

FBXW7-Related Neurodevelopmental Disorder: Clinical Spectrum, Molecular Mechanisms, and Tumor Predisposition. [PDF]

Hum Mutat
Savasta S, Comisi FF, Fiumicelli E, Dell'Isola GB, Di Pasquale G, Mangano GD, Zagaroli L, Salpietro V, Verrotti A.   +8 more
europepmc   +1 more source

A rare variant of oromandibular limb hypogenesis syndrome: a case report of glossopalatal ankylosis. [PDF]

Front Dent Med
Chopra S, B V, Singh E, Parashar A, Dandge M.   +4 more
europepmc   +1 more source

Necrotizing Enterocolitis Due to Mesenteric Artery Thrombosis in a Patient with Craniofrontonasal Dysplasia: Casual or Causal Association? [PDF]

J Clin Med
Serra G, Bacile D, Di Pace MR, Giliberti A, Giuffré M, Pensabene M, Ranucci G, Sergio M, Corsello G, Nardello R.   +9 more
europepmc   +1 more source

A Pediatric Case of Neurodevelopmental Delay with a Familial <i>H4C11</i> Variant: Clinical Course and Diagnostic Challenges. [PDF]

J Clin Med
Tudorache E, Giurgiuveanu A, Severin E, Iordănescu II, Bulf MA.   +4 more
europepmc   +1 more source

The First Case of Kleefstra Syndrome in a Rwandan Patient with Global Developmental Delay. [PDF]

Genes (Basel)
Dukuze N, Hitayezu J, Uyisenga JP, Uwibambe E, Caberg JH, Dideberg V, Bours V, Alagbonsi AI, Mutesa L, Uwineza A.   +9 more
europepmc   +1 more source