Results
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2381.
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2382.
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2383.
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2384.
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2385.
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Clinical, Electrodiagnostic, and Genetic Features of Tangier Disease in an Adolescent Girl with Presentation of Peripheral Neuropathy. [electronic resource] by
- Per, Huseyin
- Canpolat, Mehmet
- Bayram, Ayşe Kaçar
- Ulgen, Ege
- Baran, Burçin
- Kardas, Fatih
- Gumus, Hakan
- Kumandas, Sefer
- Bilguvar, Kaya
- Çağlayan, Ahmet Okay
Producer: 20160907
In:
Neuropediatrics vol. 46
Availability: No items available.
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2386.
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Loss of LMOD1 impairs smooth muscle cytocontractility and causes megacystis microcolon intestinal hypoperistalsis syndrome in humans and mice. [electronic resource] by
- Halim, Danny
- Wilson, Michael P
- Oliver, Daniel
- Brosens, Erwin
- Verheij, Joke B G M
- Han, Yu
- Nanda, Vivek
- Lyu, Qing
- Doukas, Michael
- Stoop, Hans
- Brouwer, Rutger W W
- van IJcken, Wilfred F J
- Slivano, Orazio J
- Burns, Alan J
- Christie, Christine K
- de Mesy Bentley, Karen L
- Brooks, Alice S
- Tibboel, Dick
- Xu, Suowen
- Jin, Zheng Gen
- Djuwantono, Tono
- Yan, Wei
- Alves, Maria M
- Hofstra, Robert M W
- Miano, Joseph M
Producer: 20180510
In:
Proceedings of the National Academy of Sciences of the United States of America vol. 114
Availability: No items available.
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2387.
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Refining the phenotype associated with CASC5 mutation. [electronic resource] by
- Saadi, Abdelkrim
- Verny, Florine
- Siquier-Pernet, Karine
- Bole-Feysot, Christine
- Nitschke, Patrick
- Munnich, Arnold
- Abada-Dendib, Myriam
- Chaouch, Malika
- Abramowicz, Marc
- Colleaux, Laurence
Producer: 20161019
In:
Neurogenetics vol. 17
Availability: No items available.
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2388.
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Mutations in [electronic resource] by
- van den Berg, Maarten P
- Almomani, Rowida
- Biaggioni, Italo
- van Faassen, Martijn
- van der Harst, Pim
- Silljé, Herman H W
- Mateo Leach, Irene
- Hemmelder, Marc H
- Navis, Gerjan
- Luijckx, Gert Jan
- de Brouwer, Arjan P M
- Venselaar, Hanka
- Verbeek, Marcel M
- van der Zwaag, Paul A
- Jongbloed, Jan D H
- van Tintelen, J Peter
- Wevers, Ron A
- Kema, Ido P
Producer: 20190813
In:
Circulation research vol. 122
Availability: No items available.
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2389.
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Extensive Variation in the Mutation Rate Between and Within Human Genes Associated with Mendelian Disease. [electronic resource] by
- Smith, Thomas
- Ho, Gladys
- Christodoulou, John
- Price, Elizabeth Ann
- Onadim, Zerrin
- Gauthier-Villars, Marion
- Dehainault, Catherine
- Houdayer, Claude
- Parfait, Beatrice
- van Minkelen, Rick
- Lohman, Dietmar
- Eyre-Walker, Adam
Producer: 20161228
In:
Human mutation vol. 37
Availability: No items available.
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2390.
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2391.
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2392.
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2393.
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2394.
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2395.
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2396.
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2397.
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Pathogenic homozygous variant in POMK gene is the cause of prenatally detected severe ventriculomegaly in two Lithuanian families. [electronic resource] by
- Preiksaitiene, Egle
- Voisin, Norine
- Gueneau, Lucie
- Benušienė, Eglė
- Krasovskaja, Natalija
- Blažytė, Evelina Marija
- Ambrozaitytė, Laima
- Rančelis, Tautvydas
- Reymond, Alexandre
- Kučinskas, Vaidutis
Producer: 20210104
In:
American journal of medical genetics. Part A vol. 182
Availability: No items available.
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2398.
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Compound heterozygosity and nonsense mutations in the alpha(1)-subunit of the inhibitory glycine receptor in hyperekplexia. [electronic resource] by
- Rees, M I
- Lewis, T M
- Vafa, B
- Ferrie, C
- Corry, P
- Muntoni, F
- Jungbluth, H
- Stephenson, J B
- Kerr, M
- Snell, R G
- Schofield, P R
- Owen, M J
Producer: 20011207
In:
Human genetics vol. 109
Availability: No items available.
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2399.
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2400.
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