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Artikel 91 Exome Pool-Seq in neurodevelopmental disorders
Enthalten in European journal of human genetics Bd. 25, 20.11.2017, Nr. 12, date:12.2017: 1364-1376
Online Ressource
Artikel 92 Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1
Enthalten in BMC medical genetics Bd. 12, 9.8.2011, Nr. 1, date:12.2011: 1-12
Online Ressource
Artikel 93 Expanding the clinical spectrum of COL1A1 mutations in different forms of glaucoma
Enthalten in Orphanet journal of rare diseases Bd. 11, 2.8.2016, Nr. 1, date:12.2016: 1-12
Online Ressource
Artikel 94 Genome sequencing in families with congenital limb malformations
Enthalten in Human genetics Bd. 140, 22.6.2021, Nr. 8, date:8.2021: 1229-1239
Online Ressource
Artikel 95 Genome-wide association and targeted analysis of copy number variants with psoriatic arthritis in German patients
Enthalten in BMC medical genetics Bd. 18, 23.8.2017, Nr. 1, date:12.2017: 1-10
Online Ressource
Artikel 96 GPFrontend and GPGraphics: graphical analysis tools for genetic association studies
Enthalten in BMC bioinformatics Bd. 11, 21.9.2010, Nr. 1, date:12.2010: 1-5
Online Ressource
Artikel 97 GWAS meta-analysis of psoriasis identifies new susceptibility alleles impacting disease mechanisms and therapeutic targets
Enthalten in Nature Communications Bd. 16, 28.2.2025, Nr. 1, date:12.2025: 1-14
Online Ressource
Artikel 98 Identification of low-frequency TRAF3IP2 coding variants in psoriatic arthritis patients and functional characterization
Enthalten in Arthritis Research & Therapy Bd. 14, 18.4.2012, Nr. 2, date:4.2012: 1-5
Online Ressource
Artikel 99 Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal models
Enthalten in Neurogenetics Bd. 10, 3.9.2009, Nr. 4, date:10.2009: 375-376
Online Ressource
Artikel 100 Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal models
Enthalten in Neurogenetics Bd. 10, 17.3.2009, Nr. 4, date:10.2009: 275-287
Online Ressource


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