Associated Papers
A novel missense variant in CEACAM16 gene causes autosomal dominant nonsyndromic hearing loss.
Zhang D et al.
Annals of Human Genetics, 2022
35292975 (PubMed )
Supplement: AHG-86-207-s002.xlsx › RawData
Novel Loss-of-Function Mutations in NPR2 Cause Acromesomelic Dysplasia, Maroteaux Type.
Wu J et al.
Frontiers in Genetics, 2022
35368703 (PubMed )
Supplement: DataSheet1.zip › 823861_SupMaterial › Data_Sheet_1.ZIP › raw_datas › patient_2__NGS_raw_data.xlsx › Sheet1
Non-polyalanine repeat mutation in PHOX2B is detected in autopsy cases of sudden unexpected infant death.
Ueda A et al.
Plos One, 2022
35486589 (PubMed )
Supplement: pone.0267751.s001.xls › SIDS3-full
Familial Temperature-Sensitive Auditory Neuropathy: Distinctive Clinical Courses Caused by Variants of the OTOF Gene.
Zhu YM et al.
Frontiers in Cell and Developmental Biology, 2021
34692690 (PubMed )
Supplement: Table_2.xlsx › Supplementary_Table_5
A novel patient-derived organoids-based xenografts model for preclinical drug response testing in patients with colorectal liver metastases.
Jian M et al.
Journal of Translational Medicine, 2020
32532289 (PubMed )
Supplement: 12967_2020_2407_MOESM2_ESM.xlsx › Table_S1A_356_SNV
The role of ESCO2, SALL4 and TBX5 genes in the susceptibility to thalidomide teratogenesis.
Gomes JDA et al.
Scientific Reports, 2019
Holt-Oram Syndrome in a Patient with Crohn's Disease: a Rare Case Report and Literature Review.
Arkoumanis PT et al.
Medical Archives (sarajevo, Bosnia and Herzegovina), 2018
Genetic variation of SAL-Like 4 (SALL4) in ventricular septal defect.
Wang B et al.
International Journal of Cardiology, 2010
Mutational analysis of SAL-Like 4 (SALL4) in Han Chinese women with premature ovarian failure.
Wang B et al.
Molecular Human Reproduction, 2009
IVIC syndrome is caused by a c.2607delA mutation in the SALL4 locus.
Paradisi I et al.
American Journal of Medical Genetics. Part A, 2007
SALL4 mutations in Okihiro syndrome (Duane-radial ray syndrome), acro-renal-ocular syndrome, and related disorders.
Kohlhase J et al.
Human Mutation, 2005
Clinical and Genetic Findings in Mexican Patients with Duane Anomaly and Radial Ray Malformations/Okihiro Syndrome.
Chacón-Camacho ÓF et al.
Revista De Investigacion Clinica; Organo Del Hospital De Enfermedades De La Nutricion, 0
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