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De novo mutations in POLG presenting with acute liver failure or encephalopathy. [electronic resource] by
- Lutz, Richard E
- Dimmock, David
- Schmitt, Eric S
- Zhang, Qing
- Tang, Lin-Ya
- Reyes, Christine
- Truemper, Edward
- McComb, Rodney D
- Hernandez, Angel
- Basinger, Alice
- Wong, Lee-Jun C
Producer: 20091104
In:
Journal of pediatric gastroenterology and nutrition vol. 49
Availability: No items available.
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8.
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Capture-based high-coverage NGS: a powerful tool to uncover a wide spectrum of mutation types. [electronic resource] by
- Wang, Jing
- Yu, Hui
- Zhang, Victor Wei
- Tian, Xia
- Feng, Yanming
- Wang, Guoli
- Gorman, Elizabeth
- Wang, Hao
- Lutz, Richard E
- Schmitt, Eric S
- Peacock, Sandra
- Wong, Lee-Jun
Producer: 20170915
In:
Genetics in medicine : official journal of the American College of Medical Genetics vol. 18
Availability: No items available.
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9.
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Enzyme-replacement therapy in life-threatening hypophosphatasia. [electronic resource] by
- Whyte, Michael P
- Greenberg, Cheryl R
- Salman, Nada J
- Bober, Michael B
- McAlister, William H
- Wenkert, Deborah
- Van Sickle, Bradley J
- Simmons, Jill H
- Edgar, Terence S
- Bauer, Martin L
- Hamdan, Mohamed A
- Bishop, Nick
- Lutz, Richard E
- McGinn, Mairead
- Craig, Stanley
- Moore, Jean N
- Taylor, John W
- Cleveland, Robert H
- Cranley, William R
- Lim, Ruth
- Thacher, Tom D
- Mayhew, Jill E
- Downs, Matthew
- Millán, José Luis
- Skrinar, Alison M
- Crine, Philippe
- Landy, Hal
Producer: 20120316
In:
The New England journal of medicine vol. 366
Availability: No items available.
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10.
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FOXG1 syndrome: genotype-phenotype association in 83 patients with FOXG1 variants. [electronic resource] by
- Mitter, Diana
- Pringsheim, Milka
- Kaulisch, Marc
- Plümacher, Kim Sarah
- Schröder, Simone
- Warthemann, Rita
- Abou Jamra, Rami
- Baethmann, Martina
- Bast, Thomas
- Büttel, Hans-Martin
- Cohen, Julie S
- Conover, Elizabeth
- Courage, Carolina
- Eger, Angelika
- Fatemi, Ali
- Grebe, Theresa A
- Hauser, Natalie S
- Heinritz, Wolfram
- Helbig, Katherine L
- Heruth, Marion
- Huhle, Dagmar
- Höft, Karen
- Karch, Stephanie
- Kluger, Gerhard
- Korenke, G Christoph
- Lemke, Johannes R
- Lutz, Richard E
- Patzer, Steffi
- Prehl, Isabelle
- Hoertnagel, Konstanze
- Ramsey, Keri
- Rating, Tina
- Rieß, Angelika
- Rohena, Luis
- Schimmel, Mareike
- Westman, Rachel
- Zech, Frank-Martin
- Zoll, Barbara
- Malzahn, Dörthe
- Zirn, Birgit
- Brockmann, Knut
Producer: 20181002
In:
Genetics in medicine : official journal of the American College of Medical Genetics vol. 20
Availability: No items available.
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11.
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Structural brain anomalies in patients with FOXG1 syndrome and in Foxg1+/- mice. [electronic resource] by
- Pringsheim, Milka
- Mitter, Diana
- Schröder, Simone
- Warthemann, Rita
- Plümacher, Kim
- Kluger, Gerhard
- Baethmann, Martina
- Bast, Thomas
- Braun, Sarah
- Büttel, Hans-Martin
- Conover, Elizabeth
- Courage, Carolina
- Datta, Alexandre N
- Eger, Angelika
- Grebe, Theresa A
- Hasse-Wittmer, Annette
- Heruth, Marion
- Höft, Karen
- Kaindl, Angela M
- Karch, Stephanie
- Kautzky, Torsten
- Korenke, Georg C
- Kruse, Bernd
- Lutz, Richard E
- Omran, Heymut
- Patzer, Steffi
- Philippi, Heike
- Ramsey, Keri
- Rating, Tina
- Rieß, Angelika
- Schimmel, Mareike
- Westman, Rachel
- Zech, Frank-Martin
- Zirn, Birgit
- Ulmke, Pauline A
- Sokpor, Godwin
- Tuoc, Tran
- Leha, Andreas
- Staudt, Martin
- Brockmann, Knut
Producer: 20200218
In:
Annals of clinical and translational neurology vol. 6
Availability: No items available.
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