List of works - Kerstin Reicherter - Paulina

List of works by Kerstin Reicherter

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

scientific article published on 25 May 2017

Cartilage-hair hypoplasia caused by novel compound heterozygous RMRP mutations ⬇️

scientific article published on July 1, 2011

Congenital Joint Dislocations Caused by Carbohydrate Sulfotransferase 3 Deficiency in Recessive Larsen Syndrome and Humero-Spinal Dysostosis.

scientific article published in August 2008

Epidermolytic ichthyosis due to a de novo missense mutation c.1307T> C; p.Leu436Pro in KRT10

scientific article published on 06 December 2018

Epidermolytische Ichthyose mit Nachweis einer De-novo-Missense-Mutation c.1307T>C; p.Leu436Pro in KRT10

scientific article published on 01 January 2019

Malta (MYH9 Associated Elastin Aggregation) Syndrome: Germline Variants in MYH9 Cause Rare Sweat Duct Proliferations and Irregular Elastin Aggregations

scientific article published on 22 May 2019

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