| scholarly article | Q13442814 |
| P356 | DOI | 10.1038/S41431-019-0372-Y |
| P698 | PubMed publication ID | 30872814 |
| P50 | author | Isabelle Schrauwen | Q42318170 |
| Abdul Nasir | Q58981256 | ||
| Suzanne M. Leal | Q67209642 | ||
| Diana M Cornejo-Sanchez | Q90223620 | ||
| Béla Melegh | Q91357965 | ||
| P2093 | author name string | Zsolt Szabo | |
| Judit Bene | |||
| Anushree Acharya | |||
| Imen Chakchouk | |||
| Tamás Karosi | |||
| Béla I Melegh | |||
| Alexis Poston | |||
| P2860 | cites work | Genetic studies of the Roma (Gypsies): a review | Q21261472 |
| Human beta-mannosidase cDNA characterization and first identification of a mutation associated with human beta-mannosidosis | Q24310293 | ||
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| The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data | Q27860742 | ||
| ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data | Q29547161 | ||
| Fast and accurate long-read alignment with Burrows-Wheeler transform | Q29547193 | ||
| Fast model-based estimation of ancestry in unrelated individuals | Q29614705 | ||
| MAP3K1 function is essential for cytoarchitecture of the mouse organ of Corti and survival of auditory hair cells | Q30391988 | ||
| Absence of plastin 1 causes abnormal maintenance of hair cell stereocilia and a moderate form of hearing loss in mice | Q30607162 | ||
| The health of the Roma people: a review of the published literature | Q34057728 | ||
| Temtamy preaxial brachydactyly syndrome is caused by loss-of-function mutations in chondroitin synthase 1, a potential target of BMP signaling | Q34381719 | ||
| In silico prediction of splice-altering single nucleotide variants in the human genome | Q34711972 | ||
| MARVELD2 (DFNB49) mutations in the hearing impaired Central European Roma population--prevalence, clinical impact and the common origin | Q35605938 | ||
| SHIELD: an integrative gene expression database for inner ear research. | Q35885569 | ||
| The goya mouse mutant reveals distinct newly identified roles for MAP3K1 in the development and survival of cochlear sensory hair cells. | Q36506572 | ||
| dbNSFP v3.0: A One-Stop Database of Functional Predictions and Annotations for Human Nonsynonymous and Splice-Site SNVs | Q36576476 | ||
| Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants | Q36913464 | ||
| Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery | Q37250132 | ||
| Refining the South Asian Origin of the Romani people | Q38599483 | ||
| A comprehensive catalogue of the coding and non-coding transcripts of the human inner ear. | Q38732637 | ||
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| The Structurally Plastic CH2 Domain Is Linked to Distinct Functions of Fimbrins/Plastins. | Q41046232 | ||
| Protein tyrosine phosphatase sigma-deficient mice show aberrant cytoarchitecture and structural abnormalities in the central nervous system | Q44141724 | ||
| Carrier rates of the ancestral Indian W24X mutation in GJB2 in the general Gypsy population and individual subisolates | Q45131122 | ||
| Age at onset curves of retinitis pigmentosa. | Q46708810 | ||
| Hypothesizing an ancient Greek origin of the GJB2 35delG mutation: can science meet history? | Q47414789 | ||
| Nonsyndromic hearing loss caused by USH1G mutations: widening the USH1G disease spectrum | Q48514965 | ||
| Identification of a MYO7A mutation in a large Chinese DFNA11 family and genotype-phenotype review for DFNA11. | Q50200966 | ||
| Lower carrier rate of GJB2 W24X ancestral Indian mutation in Roma samples from Hungary: implication for public health intervention | Q50354894 | ||
| DFNB49 is an important cause of non-syndromic deafness in Czech Roma patients but not in the general Czech population | Q50432450 | ||
| High prevalence of theW24X mutation in the gene encoding connexin-26 (GJB2) in Spanish Romani (gypsies) with autosomal recessive non-syndromic hearing loss | Q57305923 | ||
| Spectrum and frequencies of mutations in the GJB2 (Cx26) gene among 156 Czech patients with pre-lingual deafness | Q80340725 | ||
| Microdeletion 20p12.3 involving BMP2 contributes to syndromic forms of cleft palate | Q84357243 | ||
| P433 | issue | 6 | |
| P921 | main subject | hearing loss | Q16035842 |
| P304 | page(s) | 869-878 | |
| P577 | publication date | 2019-03-14 | |
| P1433 | published in | European Journal of Human Genetics | Q2155433 |
| P1476 | title | Hearing impairment locus heterogeneity and identification of PLS1 as a new autosomal dominant gene in Hungarian Roma | |
| P478 | volume | 27 |
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