Publications:

Hyperphosphatasia with mental retardation syndrome 3: Cerebrospinal fluid abnormalities and correction with pyridoxine and Folinic acid.

Jimd Reports

Messina, Martina M; Manea, Emanuela E; Cullup, Thomas T; Tuschl, Karin K; Batzios, Spyros S

Publication Date: 2023-01

Variant appearance in text: SI: 2T>G

PubMed Link: 36636587

Variant Present in the following documents:

• JMD2-64-42.pdf

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Cytochrome P450Blt Enables Versatile Peptide Cyclisation to Generate Histidine- and Tyrosine-Containing Crosslinked Tripeptide Building Blocks.

Angewandte Chemie (International Ed. In English)

Zhao, Yongwei Y; Marschall, Edward E; Treisman, Maxine M; McKay, Alasdair A; Padva, Leo L; Crüsemann, Max M; Nelson, David R DR; Steer, David L DL; Schittenhelm, Ralf B RB; Tailhades, Julien J; Cryle, Max J MJ

Publication Date: 2022-09-12

Variant appearance in text: SI: Met1Arg

PubMed Link: 35851739

Variant Present in the following documents:

• ANIE-61-0-s001.pdf

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Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms.

American Journal Of Human Genetics

Knowles, Michael R MR; Ostrowski, Lawrence E LE; Loges, Niki T NT; Hurd, Toby T; Leigh, Margaret W MW; Huang, Lu L; Wolf, Whitney E WE; Carson, Johnny L JL; Hazucha, Milan J MJ; Yin, Weining W; Davis, Stephanie D SD; Dell, Sharon D SD; Ferkol, Thomas W TW; Sagel, Scott D SD; Olivier, Kenneth N KN; Jahnke, Charlotte C; Olbrich, Heike H; Werner, Claudius C; Raidt, Johanna J; Wallmeier, Julia J; Pennekamp, Petra P; Dougherty, Gerard W GW; Hjeij, Rim R; Gee, Heon Yung HY; Otto, Edgar A EA; Halbritter, Jan J; Chaki, Moumita M; Diaz, Katrina A KA; Braun, Daniela A DA; Porath, Jonathan D JD; Schueler, Markus M; Baktai, György G; Griese, Matthias M; Turner, Emily H EH; Lewis, Alexandra P AP; Bamshad, Michael J MJ; Nickerson, Deborah A DA; Hildebrandt, Friedhelm F; Shendure, Jay J; Omran, Heymut H; Zariwala, Maimoona A MA

Publication Date: 2013-10-03

Variant appearance in text: SI: 2T>G

PubMed Link: 24055112

Variant Present in the following documents:

• Main text

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