Results
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1741.
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1742.
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1743.
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1744.
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Compound heterozygous desmoplakin mutations result in a phenotype with a combination of myocardial, skin, hair, and enamel abnormalities. [electronic resource] by
- Mahoney, My G
- Sadowski, Sara
- Brennan, Donna
- Pikander, Pekka
- Saukko, Pekka
- Wahl, James
- Aho, Heikki
- Heikinheimo, Kristiina
- Bruckner-Tuderman, Leena
- Fertala, Andrzej
- Peltonen, Juha
- Uitto, Jouni
- Peltonen, Sirkku
Producer: 20100416
In:
The Journal of investigative dermatology vol. 130
Availability: No items available.
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1745.
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Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia. [electronic resource] by
- Allali, Slimane
- Le Goff, Carine
- Pressac-Diebold, Isabelle
- Pfennig, Gwendoline
- Mahaut, Clémentine
- Dagoneau, Nathalie
- Alanay, Yasemin
- Brady, Angela F
- Crow, Yanick J
- Devriendt, Koen
- Drouin-Garraud, Valérie
- Flori, Elisabeth
- Geneviève, David
- Hennekam, Raoul C
- Hurst, Jane
- Krakow, Deborah
- Le Merrer, Martine
- Lichtenbelt, Klaske D
- Lynch, Sally A
- Lyonnet, Stanislas
- MacDermot, Kay
- Mansour, Sahar
- Megarbané, André
- Santos, Heloisa G
- Splitt, Miranda
- Superti-Furga, Andrea
- Unger, Sheila
- Williams, Denise
- Munnich, Arnold
- Cormier-Daire, Valérie
Producer: 20110926
In:
Journal of medical genetics vol. 48
Availability: No items available.
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1746.
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1747.
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1748.
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Clinical features, molecular results, and management of 12 individuals with the rare arthrochalasia Ehlers-Danlos syndrome. [electronic resource] by
- Ayoub, Sandy
- Ghali, Neeti
- Angwin, Chloe
- Baker, Duncan
- Baffini, Stella
- Brady, Angela F
- Giovannucci Uzielli, Maria Luisa
- Giunta, Cecilia
- Johnson, Diana S
- Kosho, Tomoki
- Neas, Katherine
- Pope, F Michael
- Rutsch, Frank
- Scarselli, Gloria
- Sobey, Glenda
- Vandersteen, Anthony
- van Dijk, Fleur S
Producer: 20210112
In:
American journal of medical genetics. Part A vol. 182
Availability: No items available.
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1749.
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Corpus callosum agenesis, multiple cysts, skin defects, and subtle ocular abnormalities with a de novo mutation [45,XX,der(5), t(5;;14) (pter;q11.2)]. [electronic resource] by
- Zannolli, R
- Mostardini, R
- Pucci, L
- Sorrentino, L
- Biagioli, M
- Perotti, R
- Guarna, M
- Hadjistilianou, T
- Zerega, G
- Pierluigi, M
- Franco, B
- D'Ambrosio, A
- Morgese, G
Producer: 20010823
In:
American journal of medical genetics vol. 102
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1750.
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1751.
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Lymphatic dysfunction in transgenic mice expressing KSHV k-cyclin under the control of the VEGFR-3 promoter. [electronic resource] by
- Sugaya, Makoto
- Watanabe, Takahiro
- Yang, Aparche
- Starost, Matthew F
- Kobayashi, Hisataka
- Atkins, April M
- Borris, Debra L
- Hanan, Elisabeth A
- Schimel, Daniel
- Bryant, Mark A
- Roberts, Nicole
- Skobe, Mihaela
- Staskus, Katherine A
- Kaldis, Philipp
- Blauvelt, Andrew
Producer: 20060707
In:
Blood vol. 105
Availability: No items available.
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1752.
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Abnormal skin, limb and craniofacial morphogenesis in mice deficient for interferon regulatory factor 6 (Irf6). [electronic resource] by
- Ingraham, Christopher R
- Kinoshita, Akira
- Kondo, Shinji
- Yang, Baoli
- Sajan, Samin
- Trout, Kurt J
- Malik, Margaret I
- Dunnwald, Martine
- Goudy, Stephen L
- Lovett, Michael
- Murray, Jeffrey C
- Schutte, Brian C
Producer: 20070118
In:
Nature genetics vol. 38
Availability: No items available.
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1753.
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1754.
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1755.
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1756.
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1757.
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Early onset of renal cancer in a family with Birt-Hogg-Dubé syndrome. [electronic resource] by
- Kluijt, I
- de Jong, D
- Teertstra, H J
- Axwijk, P H
- Gille, J J P
- Bell, K
- van Rens, A
- van der Velden, A W G
- Middelton, L
- Horenblas, S
Producer: 20091005
In:
Clinical genetics vol. 75
Availability: No items available.
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1758.
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1759.
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1760.
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