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1441.
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1442.
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A long-range Shh enhancer regulates expression in the developing limb and fin and is associated with preaxial polydactyly. [electronic resource] by
- Lettice, Laura A
- Heaney, Simon J H
- Purdie, Lorna A
- Li, Li
- de Beer, Philippe
- Oostra, Ben A
- Goode, Debbie
- Elgar, Greg
- Hill, Robert E
- de Graaff, Esther
Producer: 20031003
In:
Human molecular genetics vol. 12
Availability: No items available.
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1443.
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1444.
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Mutations in CDMP1 cause autosomal dominant brachydactyly type C. [electronic resource] by
- Polinkovsky, A
- Robin, N H
- Thomas, J T
- Irons, M
- Lynn, A
- Goodman, F R
- Reardon, W
- Kant, S G
- Brunner, H G
- van der Burgt, I
- Chitayat, D
- McGaughran, J
- Donnai, D
- Luyten, F P
- Warman, M L
Producer: 19971002
In:
Nature genetics vol. 17
Availability: No items available.
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1445.
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1446.
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1447.
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1448.
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Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome. [electronic resource] by
- Alby, Caroline
- Piquand, Kevin
- Huber, Céline
- Megarbané, André
- Ichkou, Amale
- Legendre, Marine
- Pelluard, Fanny
- Encha-Ravazi, Ferechté
- Abi-Tayeh, Georges
- Bessières, Bettina
- El Chehadeh-Djebbar, Salima
- Laurent, Nicole
- Faivre, Laurence
- Sztriha, László
- Zombor, Melinda
- Szabó, Hajnalka
- Failler, Marion
- Garfa-Traore, Meriem
- Bole, Christine
- Nitschké, Patrick
- Nizon, Mathilde
- Elkhartoufi, Nadia
- Clerget-Darpoux, Françoise
- Munnich, Arnold
- Lyonnet, Stanislas
- Vekemans, Michel
- Saunier, Sophie
- Cormier-Daire, Valérie
- Attié-Bitach, Tania
- Thomas, Sophie
Producer: 20151029
In:
American journal of human genetics vol. 97
Availability: No items available.
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1449.
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A frameshift mutation in prominin (mouse)-like 1 causes human retinal degeneration. [electronic resource] by
- Maw, M A
- Corbeil, D
- Koch, J
- Hellwig, A
- Wilson-Wheeler, J C
- Bridges, R J
- Kumaramanickavel, G
- John, S
- Nancarrow, D
- Röper, K
- Weigmann, A
- Huttner, W B
- Denton, M J
Producer: 20000229
In:
Human molecular genetics vol. 9
Availability: No items available.
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1450.
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1451.
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1452.
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1453.
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NEK1 mutations cause short-rib polydactyly syndrome type majewski. [electronic resource] by
- Thiel, Christian
- Kessler, Kristin
- Giessl, Andreas
- Dimmler, Arno
- Shalev, Stavit A
- von der Haar, Sigrun
- Zenker, Martin
- Zahnleiter, Diana
- Stöss, Hartmut
- Beinder, Ernst
- Abou Jamra, Rami
- Ekici, Arif B
- Schröder-Kress, Nadja
- Aigner, Thomas
- Kirchner, Thomas
- Reis, André
- Brandstätter, Johann H
- Rauch, Anita
Producer: 20110203
In:
American journal of human genetics vol. 88
Availability: No items available.
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1454.
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1455.
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1456.
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1457.
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Phenotypic variability in Patau syndrome. [electronic resource] by
- Caba, Lavinia
- Rusu, Cristina
- Butnariu, Lacramioara
- Panzaru, Monica
- Braha, Elena
- Volosciuc, M
- Popescu, Roxana
- Gramescu, Mihaela
- Bujoran, C
- Martiniuc, Violeta
- Covic, M
- Gorduza, E V
Producer: 20140313
In:
Revista medico-chirurgicala a Societatii de Medici si Naturalisti din Iasi vol. 117
Availability: No items available.
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1458.
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1459.
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XYLT1 mutations in Desbuquois dysplasia type 2. [electronic resource] by
- Bui, Catherine
- Huber, Céline
- Tuysuz, Beyhan
- Alanay, Yasemin
- Bole-Feysot, Christine
- Leroy, Jules G
- Mortier, Geert
- Nitschke, Patrick
- Munnich, Arnold
- Cormier-Daire, Valérie
Producer: 20140501
In:
American journal of human genetics vol. 94
Availability: No items available.
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1460.
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