Denny Schanze und Nfix - Info zur Person

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Univerzita Karlova

explorer.cuni.cz

Studium. Denny Schanze. Osoba mimo UK. 1 publikace. Publikace. Deletions in the 3 ' Part of the NFIX Gene Including a Recurrent Alu-Mediated Deletion of Exon

LOVDhttps://databases.lovd.nl › sharedAll screenings for gene NFIX - Global Variome shared LOVD

databases.lovd.nl

DNA;RNA, PCR;SEQ, blood, -, 1, Denny Schanze DNA;RNA, PCR;SEQ, blood, -, 1, Denny Schanze.

part of the NFIX gene including a recurrent alu-mediated ...Elsevier

keio.elsevierpure.com

von D Schanze · · Zitiert von: 36 — Denny Schanze, Dorothée Neubauer, Valerie Cormier-Daire, Marie Ange Delrue, Anne Dieux-Coeslier, Tomonobu Hasegawa, Eva E. Holmberg, Rainer Koenig, Gabriele ... von D Schanze · · Zitiert von: 36 — Denny Schanze, Dorothée Neubauer, Valerie Cormier-Daire, Marie Ange Delrue, Anne Dieux-Coeslier, Tomonobu Hasegawa, Eva E. Holmberg, Rainer Koenig, Gabriele ...

Full data view for gene NFIX - Global Variome shared LOVD

databases.lovd.nl

... 0, -, -, 1, Denny Schanze. +/. 2, c.67_73dup, -, r.(?), p.(Glu25Valfs*31), Unknown, g _ dup, -, NM_ :c.43_49dup, -, NFIX_

All transcript variants in gene NFIX - Global Variome shared ...databases.lovd.nl › shared › variants › NFIX

databases.lovd.nl

... g T>C, -, NM_ :c.92T>C, -, NFIX_ , -, PubMed: Priolo 2018, Journal: Priolo 2018, -, -, De novo, -, patients, -, 0, -, Denny Schanze.

Deletions in the 3’ Part of the NFIX Gene Including a Recurrent...

www.bionity.com

Authors: Denny Schanze, Dorothée Neubauer, Valerie Cormier‐Daire, Marie‐Ange Delrue, Anne Dieux‐Coeslier, Tomonobu Hasegawa, Eva ...

All individuals with variants in gene NFIX - Global Variome shared...

databases.lovd.nl

, -, PubMed: Schanze 2014, -, F, no ? (unknown), -, -, 0, -, -, MRSHSS, -, 1, 1, Denny Schanze , -, PubMed: Schanze 2014, -, M, no ?

Disease # (SOTOS-2 (Sotos syndrome, type 2 (SOTOS-2)),...

databases.lovd.nl

... 1, 1, Denny Schanze , P42, -, -, M, no, -, -, -, 0, -, -, SOTOS-2, -, NFIX, NFIX, 1, 1, Denny Schanze , Pat5, PubMed: Klaassens ...

Deletions in the 3’ Part of the NFIX Gene Including a Recurrent...

www.bionity.com

Autoren: Denny Schanze, Dorothée Neubauer, Valerie Cormier‐Daire, Marie‐Ange Delrue, Anne Dieux‐Coeslier, Tomonobu Hasegawa, Eva ...

Unique variants in the NFIX gene - Global Variome shared LOVD

databases.lovd.nl

... RNA analysis shows normal and exon 7 skipped product of normal allele, PubMed: Schanze 2014, -, -, De novo, -, patients, -, -, -, Denny Schanze.

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