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Further evidence for POMK as candidate gene for WWS with meningoencephalocele.

Academic Journal

Paul, Luisa; Rupprich, Katrin; Della Marina, Adela; Stein, Anja; Elgizouli, Magdeldin; Kaiser, Frank J.; Schweiger, Bernd; Köninger, Angela; Iannaccone, Antonella; Hehr, Ute; Kölbel, Heike; Roos, Andreas; Schara-Schmidt, Ulrike; Kuechler, Alma

Orphanet Journal of Rare Diseases. 9/9/2020, Vol. 15 Issue 1, p1-10. 10p.

EBSCOHost PDF Full Text (Gale Academic Onefile) Full Text (ProQuest Central) Open Access (BioMed Central) Web of Science JCR 저널정보 Scopus Find it@PNU

Bi-allelic truncating mutations in VWA1 cause neuromyopathy.

Academic Journal

Deschauer, Marcus; Hengel, Holger; Rupprich, Katrin; Kreiß, Martina; Schlotter-Weigel, Beate; Grimmel, Mona; Admard, Jakob; Schneider, Ilka; Alhaddad, Bader; Gazou, Anastasia; Sturm, Marc; Vorgerd, Matthias; Balousha, Ghassan; Balousha, Osama; Falna, Mohammed; Kirschke, Jan S; Kornblum, Cornelia; Jordan, Berit; Kraya, Torsten; Strom, Tim M

Brain: A Journal of Neurology. Feb2021, Vol. 144 Issue 2, p574-583. 10p.

Full Text (Oxford University Press) Open Access (EBSCO) Web of Science JCR 저널정보 Scopus Find it@PNU

De novo variants in SLC12A6 cause sporadic early-onset progressive sensorimotor neuropathy.

Academic Journal

Joohyun Park; Flores, Bianca R.; Scherer, Katalin; Kuepper, Hanna; Rossi, Mari; Rupprich, Katrin; Rautenberg, Maren; Deininger, Natalie; Weichselbaum, Annette; Grimm, Alexander; Sturm, Marc; Grasshoff, Ute; Delpire, Eric; Haack, Tobias B.

Journal of Medical Genetics; Apr2020, Vol. 57 Issue 4, p283-288, 6p

Full Text (ProQuest Central) Full Text (BMJ Journals) Web of Science JCR 저널정보 Scopus Find it@PNU

De novovariants in SLC12A6cause sporadic early-onset progressive sensorimotor neuropathy

Periodical

Park, Joohyun; Flores, Bianca R; Scherer, Katalin; Kuepper, Hanna; Rossi, Mari; Rupprich, Katrin; Rautenberg, Maren; Deininger, Natalie; Weichselbaum, Annette; Grimm, Alexander; Sturm, Marc; Grasshoff, Ute; Delpire, Eric; Haack, Tobias B

Journal of Medical Genetics (JMG); 2020, Vol. 57 Issue: 4 p283-288, 6p

Full Text (ProQuest Central) Full Text (BMJ Journals) Web of Science JCR 저널정보 Scopus Find it@PNU

De novo variants in SLC12A6 cause sporadic early-onset progressive sensorimotor neuropathy

Academic Journal

Park, Joohyun; Flores, Bianca R.; Scherer, Katalin; Kuepper, Hanna; Rossi, Mari; Rupprich, Katrin; Rautenberg, Maren; Deininger, Natalie; Weichselbaum, Annette; Grimm, Alexander; Sturm, Marc; Grasshoff, Ute; Delpire, Eric; Haack, Tobias B.

JOURNAL OF MEDICAL GENETICS; APR 2020, 57 4, p283-p288, 6p.

Full Text (ProQuest Central) Full Text (BMJ Journals) Web of Science JCR 저널정보 Scopus Find it@PNU

Further evidence for POMK as candidate gene for WWS with meningoencephalocele

Electronic Resource

Paul, Luisa; https://orcid.org/0000-0002-6058-3274; Rupprich, Katrin; Della Marina, Adela; Stein, Anja; Elgizouli, Magdeldin; https://orcid.org/0000-0001-7424-4938; Kaiser, Frank J; Schweiger, Bernd; Köninger, Angela; Iannaccone, Antonella; Hehr, Ute; Kölbel, Heike; Roos, Andreas; Schara-Schmidt, Ulrike; Kuechler, Alma

Paul, Luisa; Rupprich, Katrin; Della Marina, Adela; Stein, Anja; Elgizouli, Magdeldin; Kaiser, Frank J; Schweiger, Bernd; Köninger, Angela; Iannaccone, Antonella; Hehr, Ute; Kölbel, Heike; Roos, Andreas; Schara-Schmidt, Ulrike; Kuechler, Alma (2020). Further evidence for POMK as candidate gene for WWS with meningoencephalocele. Orphanet Journal of Rare Diseases, 15:242.

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