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7921.
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7922.
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7923.
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7924.
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7925.
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7926.
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7927.
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7928.
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7929.
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7930.
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7931.
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7932.
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7933.
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Germline Mutation in EXPH5 Implicates the Rab27B Effector Protein Slac2-b in Inherited Skin Fragility. [electronic resource] by
- McGrath, John A
- Stone, Kristina L
- Begum, Rumena
- Simpson, Michael A
- Dopping-Hepenstal, Patricia J
- Liu, Lu
- McMillan, James R
- South, Andrew P
- Pourreyron, Celine
- McLean, W H Irwin
- Martinez, Anna E
- Mellerio, Jemima E
- Parsons, Maddy
Producer: 20130214
In:
American journal of human genetics vol. 91
Availability: No items available.
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7934.
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Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA. [electronic resource] by
- Haack, Tobias B
- Hogarth, Penelope
- Kruer, Michael C
- Gregory, Allison
- Wieland, Thomas
- Schwarzmayr, Thomas
- Graf, Elisabeth
- Sanford, Lynn
- Meyer, Esther
- Kara, Eleanna
- Cuno, Stephan M
- Harik, Sami I
- Dandu, Vasuki H
- Nardocci, Nardo
- Zorzi, Giovanna
- Dunaway, Todd
- Tarnopolsky, Mark
- Skinner, Steven
- Frucht, Steven
- Hanspal, Era
- Schrander-Stumpel, Connie
- Héron, Delphine
- Mignot, Cyril
- Garavaglia, Barbara
- Bhatia, Kailash
- Hardy, John
- Strom, Tim M
- Boddaert, Nathalie
- Houlden, Henry H
- Kurian, Manju A
- Meitinger, Thomas
- Prokisch, Holger
- Hayflick, Susan J
Producer: 20130214
In:
American journal of human genetics vol. 91
Availability: No items available.
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7935.
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Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia. [electronic resource] by
- Schuurs-Hoeijmakers, Janneke H M
- Geraghty, Michael T
- Kamsteeg, Erik-Jan
- Ben-Salem, Salma
- de Bot, Susanne T
- Nijhof, Bonnie
- van de Vondervoort, Ilse I G M
- van der Graaf, Marinette
- Nobau, Anna Castells
- Otte-Höller, Irene
- Vermeer, Sascha
- Smith, Amanda C
- Humphreys, Peter
- Schwartzentruber, Jeremy
- Ali, Bassam R
- Al-Yahyaee, Saeed A
- Tariq, Said
- Pramathan, Thachillath
- Bayoumi, Riad
- Kremer, Hubertus P H
- van de Warrenburg, Bart P
- van den Akker, Willem M R
- Gilissen, Christian
- Veltman, Joris A
- Janssen, Irene M
- Vulto-van Silfhout, Anneke T
- van der Velde-Visser, Saskia
- Lefeber, Dirk J
- Diekstra, Adinda
- Erasmus, Corrie E
- Willemsen, Michèl A
- Vissers, Lisenka E L M
- Lammens, Martin
- van Bokhoven, Hans
- Brunner, Han G
- Wevers, Ron A
- Schenck, Annette
- Al-Gazali, Lihadh
- de Vries, Bert B A
- de Brouwer, Arjan P M
Producer: 20130214
In:
American journal of human genetics vol. 91
Availability: No items available.
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7936.
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7937.
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7938.
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7939.
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7940.
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