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List of works by Guntram Borck

4.7 Mb deletion encompassing TGFB2 associated with features of Loeys-Dietz syndrome and osteoporosis in adulthood

scientific article published on 25 May 2017

A hypomorphic BMPR1B mutation causes du Pan acromesomelic dysplasia

scientific article

A novel homozygous missense variant in NECTIN4 (PVRL4) causing ectodermal dysplasia cutaneous syndactyly syndrome.

scientific article published on 12 February 2018

Analysis of shared heritability in common disorders of the brain

scientific article published on 21 June 2018

Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9.

scientific article published on 20 February 2018

Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome

scientific article

Erratum: Corrigendum: Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine

scientific article published in October 2016

Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations

scientific article published on 11 March 2014

Expanding the phenotype associated with biallelic WDR60 mutations: Siblings with retinal degeneration and polydactyly lacking other features of short rib thoracic dystrophies

scientific article published on 22 December 2017

Genome-wide association study of migraine implicates a common susceptibility variant on 8q22.1.

scientific article

Genome-wide meta-analysis identifies new susceptibility loci for migraine

scientific article

Kaufman oculocerebrofacial syndrome: Novel UBE3B mutations and clinical features in four unrelated patients.

scientific article published on 21 November 2017

Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine

scientific article

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