Results 141 to 150 of about 16,014 (187)

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

A Case Report of Mega Cisterna Magna with Extra-cranial Features of Dandy-Walker Malformation in an Adult: Implications for the Dandy-Walker Complex Continuum. [PDF]

Acta Med Philipp
Balmores EJF.
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

Kaufman oculocerebrofacial syndrome: case report of a UBE3B splice site variant and clinical overview of reported patients. [PDF]

Mol Cytogenet
Abdelfattah AS, Saleh MA.
europepmc   +1 more source

Apert Syndrome. [PDF]

Indian Dermatol Online J
Gupta P, Sangwan P, Thakur V.
europepmc   +1 more source

Expanding the Clinical and Molecular Spectrum of Primary Autosomal Recessive Microcephaly: Novel CDK5RAP2 Gene Variants and Functional Insights on the Intronic Variants. [PDF]

Genes (Basel)
Yeter B, Kendir Demirkol Y, Usluer E, Görüşen Kavak İ, Ergin SG, Elçioğlu NH.   +5 more
europepmc   +1 more source

From FGFR2 mutations to precision management: a review of prenatal diagnosis and multidisciplinary interventions in apert syndrome. [PDF]

Front Pediatr
Li H, Shen J, Tang M, Wan S, Zhang S.
europepmc   +1 more source

Clinical and Genetic Characterization of Noonan Syndrome in a Romanian Cohort from Transylvania: Details on <i>PTPN11</i> c.922A>G Variant and Phenotypic Spectrum. [PDF]

Diagnostics (Basel)
Nazarie FV, Miclea D, Șufană C, Botezatu A, Popp RA, Pascanu IM, Alkhzouz C, Bucerzan S, Lazăr C, Lazea C, Vulturar R.   +10 more
europepmc   +1 more source

Double Genetic Diagnosis Involving MECP2 and EPHB4 in a Child with Neurodevelopmental Delay and Vascular Anomalies: A Case Report. [PDF]

Mol Syndromol
Sanri A, Mutlu MB.
europepmc   +1 more source