Results 161 to 170 of about 338,913 (237)

Skeletal involvement in Joubert syndrome: From low bone mineral density to severe secondary osteoporosis. [PDF]

Intractable Rare Dis Res
Babina T, Górczewska BA, Jakubowska-Pietkiewicz E.   +2 more
europepmc   +1 more source

Normal neuroimaging in an infant with SUCLA2-related mitochondrial DNA depletion syndrome type 5: a case report of likely pathogenic variant. [PDF]

Oxf Med Case Reports
Alsadi MO, Heikal Y, Al-Hasani F, Al Khasawneh D, Nasab A, Hrizat H, Almoustafa F, Hussain B.   +7 more
europepmc   +1 more source

Case Report: Concurrent maternal uniparental disomy-type Prader-Willi syndrome and X-linked G6PD deficiency-an area of focus on multi-gene screening for imprinting disorders. [PDF]

Front Pediatr
Zhou Q, Yuan JM, Zou CC.
europepmc   +1 more source

Novel biallelic multi-exon duplication in the PIGN gene associated with multiple congenital anomalies-hypotonia-seizures syndrome 1. [PDF]

BMC Pediatr
Li X, Wang X, Zhu J, Li H.
europepmc   +1 more source

Novel Clinical and Neurophysiological Insights in Neonatal-Onset 3-Methylglutaconic Aciduria Type VIII due to HTRA2 Mutations. [PDF]

Mol Genet Genomic Med
Belmessieri B, Brunetti S, Malerba L, Martelli P, Giordano L, Plumari M, Errichiello E, Accorsi P.   +7 more
europepmc   +1 more source

A Clinical Genetics-Driven Dual Diagnosis of Prader-Willi Syndrome Due to Mosaic Maternal UPD(15) and <i>NOTCH3</i>-Related CADASIL. [PDF]

Genes (Basel)
Bogliardi FM, D'Ambrosio P, Quattromini G, Di Mario G, Pomponi MG, Miele L, Vergani E, Zampino G, Liguori A, Zollino M, Crinò A.   +10 more
europepmc   +1 more source

Goldberg-Shprintzen Megacolon Syndrome Diagnosed in the Neonatal Period: A Case Report With Molecular Confirmation. [PDF]

Cureus
Papaioannou E, Anastasiadou E.
europepmc   +1 more source

Novel SLC6A9 variants in an adult presenting with GlyT1 encephalopathy. [PDF]

J Hum Genet
Mencias M, Kanagaratnam M, Matthews E.
europepmc   +1 more source

Clinical challenges of an Xp21 contiguous gene deletion syndrome in a newborn and 15 months of follow-up - case report. [PDF]

Front Endocrinol (Lausanne)
Frulenko I, Ostrowska I, Patalan M, Bertoli-Avella A, León NY, Pinto A, Bauer P, Leśniak A, Katuszonek D, Glińska M, Modrzejewska M, Śmigiel R, Giżewska M.   +12 more
europepmc   +1 more source

GLRB-Related Hyperekplexia Presenting as Neonatal Seizure-Like Events. [PDF]

J Paediatr Child Health
Contrucci BA, Bandeira HM, Angonese ST, de Almeida ML, de Oliveira RP, Tumas V, Hamad APA, Traslaviña GAA, Caldas CACT.   +8 more
europepmc   +1 more source