Results 161 to 170 of about 11,370 (226)

Case Report: Rothmund-Thomson syndrome type 2 in Ecuador: clinical and molecular insights into a recurrent <i>RECQL4</i> variant. [PDF]

Front Pediatr
Armas Samaniego MI, Briones Vasquez M, Mariño Zambrano M, Romero VI, Melo K, Pozo-Palacios JC.   +5 more
europepmc   +1 more source

Diagnostic Role of Anterior Segment Optical Coherence Tomography in an Atypical Presentation of Varicella Zoster Virus Interstitial Keratitis: A Case Report. [PDF]

Am J Case Rep
Alsaggaf K, Jomar DE, Al-Swailem SA.
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

Nabais Sá-de Vries Syndrome Type 1 in a Mexican Girl: A Case Report. [PDF]

Cureus
Olivares-Huerta O, Castro-Coyotl DM, Crisanto-López IE, Cervantes-Larios J, Ochoa-Precoma R, Morales-López BF, Trejo-Toscano IA, Juárez-Melchor D.   +7 more
europepmc   +1 more source

A New Classification of Dermatochalasis, the Effect of This Classification and Blepharoplasty Surgery on the Visual Field. [PDF]

Eurasian J Med
Dertsiz Kozan B.
europepmc   +1 more source

Identification of novel compound heterozygous variants of the PNPLA6 gene in Oliver-McFarlane syndrome with concomitant insulin resistance. [PDF]

Genes Dis
Qiu R, Tang M, Zhu W, Wang B, Li W, Lei Y, Zheng F.   +6 more
europepmc   +1 more source

Wiedemann-Steiner Syndrome (WSS): A Neonatal Case Report Expanding the Phenotypic Spectrum of a Previously Reported Missense Variant. [PDF]

Int J Mol Sci
Poulou M, Kamilari T, Nikaina E, Dikoglou-Tzanetatou E, Kanaka-Gantenbein C, Kolialexi A, Siahanidou T.   +6 more
europepmc   +1 more source

Autosomal recessive woolly hair/hypotrichosis with homozygous mutation in the <i>LIPH</i> gene: a case report. [PDF]

Dermatol Reports
Alwunais K, Alqahtani J, Aljalfan A, Alotaibi H.   +3 more
europepmc   +1 more source

Prenatal diagnosis of Blepharo-Cheilo-Dontic syndrome: a case report. [PDF]

Arch Gynecol Obstet
Rejaey A, Berg C, Reuss A, Gottschalk I.
europepmc   +1 more source