scholarly article | Q13442814 |
P50 | author | Christian Beetz | Q47417662 |
Jill E. Urquhart | Q51063860 | ||
Simon G Williams | Q59021241 | ||
Thomas Meitinger | Q28039310 | ||
Melanie Waldenberger | Q29839617 | ||
William G. Newman | Q38545164 | ||
Hermann-Josef Lüdecke | Q40929042 | ||
Johanna Christina Czeschik | Q40935095 | ||
John Burn | Q6223948 | ||
P2093 | author name string | Thomas Wieland | |
Beverley Anderson | |||
James O'Sullivan | |||
Sanjeev S Bhaskar | |||
Tim M Strom | |||
Sarah B Daly | |||
Odile Boute | |||
Ute Hehr | |||
Anthonie J van Essen | |||
Elisabeth Graf | |||
Thomas Schwarzmayr | |||
Jasmin Gundlach | |||
Dagmar Wieczorek | |||
Bernhard Horsthemke | |||
Tea Berulava | |||
Charles Marques Lourenco | |||
Johannes R Lemke | |||
Kerstin U Ludwig | |||
Filiz Hazan | |||
Jill Clayton-Smith | |||
Elisabeth Mangold | |||
Michael Zeschnigk | |||
Sarah Park | |||
Sofia Douzgou | |||
Dietmar R Lohmann | |||
Anne C Böhmer | |||
Eva-Christina Prott | |||
Raymond T O'Keefe | |||
Alma Kuechler | |||
Maria Kaffe | |||
Anne Hing | |||
Daniela Falkenstein | |||
Laura Steenpaß | |||
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Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation | Q34344840 | ||
Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24. | Q34959002 | ||
Modulation of the phenotype in dominant erythropoietic protoporphyria by a low expression of the normal ferrochelatase allele | Q35881399 | ||
Nonsyndromic cleft lip with or without cleft palate in arab populations: genetic analysis of 15 risk loci in a novel case-control sample recruited in Yemen | Q39198430 | ||
P433 | issue | 6 | |
P407 | language of work or name | English | Q1860 |
P921 | main subject | heterozygosity | Q124059385 |
P304 | page(s) | 698-707 | |
P577 | publication date | 2014-11-26 | |
P1433 | published in | American Journal of Human Genetics | Q4744249 |
P1476 | title | Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndrome | |
P478 | volume | 95 |
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Q37022749 | Sf3b4-depleted Xenopus embryos: A model to study the pathogenesis of craniofacial defects in Nager syndrome |
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