Results 101 to 110 of about 2,641 (162)

Diagnostic Pitfall in Genomic Era: Discordant <i>SMARCA2</i> Finding in Patient with Megalencephalic Leukoencephalopathy with Subcortical Cysts. [PDF]

Diagnostics (Basel)
Wang CH, Lin SP, Huang JK, Chiu NC.
europepmc   +1 more source

Marcus-Gunn Jaw-Winking Phenomenon: A Case Report on Rare Oculofacial Synkinesis. [PDF]

Int Med Case Rep J
Alharthe AFH, Alghreeb HM, ALBalawi HB, ALAli NM.   +3 more
europepmc   +1 more source

A novel variant in <i>SIAH1</i> associated with autosomal dominant Buratti-Harel syndrome. [PDF]

Front Neurosci
Zheng H, Zhang L, Li F.
europepmc   +1 more source

Embryodysgenesis of the Lids and Orbit. [PDF]

Eye (Lond)
Katowitz JA, Ataei Y, Bhoj EJ, Taylor JA.   +3 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

Interplay between genomic architecture alterations and GDF6 regulation: A candidate mechanism in Nablus mask-like facial syndrome. [PDF]

HGG Adv
Bologa AM, Dimos L, Pavel AG, Stratan M, Elisabeta Bână P, Stambouli D, Butnariuc I, Truică RA, Focşa IO, Plăiașu V, Țuțulan-Cuniță A.   +10 more
europepmc   +1 more source

A novel homozygous splicing variant in FRA10AC1: further delineation of the phenotype. [PDF]

J Hum Genet
Abdel-Hamid MS, Abdel-Salam GMH.
europepmc   +1 more source

A Novel MAF Variant Causing Aymé-Gripp Syndrome With Transient Anemia. [PDF]

Congenit Anom (Kyoto)
Hara M, Morisawa T, Hasegawa D, Nozu K, Morisada N.   +4 more
europepmc   +1 more source

Reply to the Letter to the Editor: "Comment on 'Delayed-Onset Type 1 Kounis Syndrome Caused Ventricular Fibrillation: A Case Report'". [PDF]

Anatol J Cardiol
Cui H, Li Y, Liu Y.
europepmc   +1 more source

A Systematic Review Illustrates the Expanding Clinical and Molecular Landscape of Helsmoortel-Van der Aa Syndrome. [PDF]

Brain Sci
Harutyunyan L, D'Incal CP, Jansen AC, Meuwissen M, Van Dijck A, Kooy RF.   +5 more
europepmc   +1 more source