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Human Genetics|May 26, 1998
Analysis of the human Sonic Hedgehog coding and promoter regions in sacral agenesis, triphalangeal thumb, and mirror polydactylyF R Vargas, E Roessler, K Gaudenz, et al.
Medrxiv : the Preprint Server for Health Sciences|July 15, 2024
Pathogenic variants in <i>TMEM184B</i> cause a neurodevelopmental syndrome via alteration of metabolic signalingKimberly A Chapman, Farid Ullah, Zachary A Yahiku, et al.
Cell Death Discovery|January 3, 2024
Modulation of tumor microenvironment by targeting histone acetylation in bladder cancerSandra P Nunes, Lucia Morales, Carolina Rubio, et al.
Public Health|December 10, 2016
Knowledge about sources of dietary fibres and health effects using a validated scale: a cross-country studyR P F Guiné, J Duarte, M Ferreira, et al.
Public Health|May 15, 2016
Knowledge about dietary fibres (KADF): development and validation of an evaluation instrument through structural equation modelling (SEM)R P F Guiné, J Duarte, M Ferreira, et al.
Cancers|September 23, 2022
Identification of Novel Molecular Subgroups in Esophageal Adenocarcinoma to Predict Response to Neo-Adjuvant TherapiesSanne J M Hoefnagel, Willem J Koemans, Hina N Khan, et al.
American Journal of Human Genetics|April 6, 2000
Mutation analysis and embryonic expression of the HLXB9 Currarino syndrome geneD M Hagan, A J Ross, T Strachan, et al.
Journal of Inherited Metabolic Disease|October 13, 2009
Clinical and biochemical studies in mucopolysaccharidosis type II carriersI V D Schwartz, L L C Pinto, G Breda, et al.
American Journal of Human Genetics|August 30, 2025
Pathogenic variants in TMEM184B cause a neurodevelopmental syndrome associated with alteration of metabolic signalingKimberly A Chapman, Farid Ullah, Zachary A Yahiku, et al.
American Journal of Human Genetics|July 13, 2022
Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcificationsErik Rosenhahn, Thomas J O'Brien, Maha S Zaki, et al.
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