Showing results (541-550 of 1,163) with videos related to

Sort By:
Pageof 117
Clinical Dysmorphology|May 17, 2023
DEGS1 -related leukodystrophy: a clinical report and review of literatureMelissa Song Ting Wong, Terrence Thomas, Jiin Ying Lim, et al.
Clinical Dysmorphology|September 4, 2021
Silver Russell syndrome in a preterm girl with 8q12.1 deletion encompassing PLAG1José Ramón Fernández-Fructuoso, Cristina De la Torre-Sandoval, Madeleine D Harbison, et al.
Clinical Dysmorphology|November 6, 2025
Recurrent RAC3 related neuro-rachopathy in a pair of Indian siblings with novel findings: expanding the spectrum of brain anomaliesGayatri Nerakh, Prashanth Rao Dhareneni, Udhaya Kotecha
Clinical Dysmorphology|November 6, 2025
Observed total and live birth prevalence of Wolf-Hirschhorn syndrome in England 2015-2020Oliver W J Quarrell, Ewoma Obaro, Alexander Thompson, et al.
Clinical Dysmorphology|May 21, 2021
KIAA0753-related skeletal ciliopathy: a ninth case, extending the phenotype and reporting a novel variantAtaf H Sabir, Jameela Sheikh, Vasantha Gowda, et al.
Clinical Dysmorphology|July 14, 2025
Amnioreduction as a therapeutic strategy for MAGED2 -related Bartter syndrome: prolonging gestation and improving outcomes through genetic-guided prenatal managementXiaoxia Wu, Yang Liu, Caiqun Luo, et al.
Clinical Dysmorphology|August 14, 2024
Report of a novel recurrent homozygous variant c.620A>T in three unrelated families with thiamine metabolism dysfunction syndrome 5 and review of literatureSelinda Mascarenhas, Mayuri Yeole, Lakshmi Priya Rao, et al.
Clinical Dysmorphology|August 30, 2023
Clinical and molecular study of Egyptian patients with Treacher Collins syndromeNagham M Elbagoury, Amira Nabil, Asmaa F Abdel-Aleem, et al.
Clinical Dysmorphology|December 1, 2023
Fragile X syndrome in Democratic Republic of Congo: dysmorphic, cognitive and behavioral findings in 14 subjects from three familiesToni Kasole Lubala, Tony Kayembe-Kitenge, Nina Lubala, et al.
Clinical Dysmorphology|June 10, 2024
Thirteen Indians with camptodactyly-arthropathy-coxa vara-pericarditis syndromeSwati Singh, Vaishnavi Ashok Badiger, Suma Balan, et al.
Pageof 117