Results
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1421.
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1422.
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1423.
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1424.
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1425.
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1426.
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1427.
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1428.
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CANT1 mutation is also responsible for Desbuquois dysplasia, type 2 and Kim variant. [electronic resource] by
- Furuichi, Tatsuya
- Dai, Jin
- Cho, Tae-Joon
- Sakazume, Satoru
- Ikema, Masahide
- Matsui, Yoshito
- Baynam, Gareth
- Nagai, Toshiro
- Miyake, Noriko
- Matsumoto, Naomichi
- Ohashi, Hirofumi
- Unger, Sheila
- Superti-Furga, Andrea
- Kim, Ok-Hwa
- Nishimura, Gen
- Ikegawa, Shiro
Producer: 20110610
In:
Journal of medical genetics vol. 48
Availability: No items available.
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1429.
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1430.
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1431.
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1432.
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Linkage mapping in 29 Bardet-Biedl syndrome families confirms loci in chromosomal regions 11q13, 15q22.3-q23, and 16q21. [electronic resource] by
- Bruford, E A
- Riise, R
- Teague, P W
- Porter, K
- Thomson, K L
- Moore, A T
- Jay, M
- Warburg, M
- Schinzel, A
- Tommerup, N
- Tornqvist, K
- Rosenberg, T
- Patton, M
- Mansfield, D C
- Wright, A F
Producer: 19970520
In:
Genomics vol. 41
Availability: No items available.
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1433.
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1434.
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De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome. [electronic resource] by
- Mirzaa, Ghayda
- Parry, David A
- Fry, Andrew E
- Giamanco, Kristin A
- Schwartzentruber, Jeremy
- Vanstone, Megan
- Logan, Clare V
- Roberts, Nicola
- Johnson, Colin A
- Singh, Shawn
- Kholmanskikh, Stanislav S
- Adams, Carissa
- Hodge, Rebecca D
- Hevner, Robert F
- Bonthron, David T
- Braun, Kees P J
- Faivre, Laurence
- Rivière, Jean-Baptiste
- St-Onge, Judith
- Gripp, Karen W
- Mancini, Grazia Ms
- Pang, Ki
- Sweeney, Elizabeth
- van Esch, Hilde
- Verbeek, Nienke
- Wieczorek, Dagmar
- Steinraths, Michelle
- Majewski, Jacek
- Boycot, Kym M
- Pilz, Daniela T
- Ross, M Elizabeth
- Dobyns, William B
- Sheridan, Eamonn G
Producer: 20140616
In:
Nature genetics vol. 46
Availability: No items available.
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1435.
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1436.
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1437.
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1438.
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GLI1 inactivation is associated with developmental phenotypes overlapping with Ellis-van Creveld syndrome. [electronic resource] by
- Palencia-Campos, Adrian
- Ullah, Asmat
- Nevado, Julian
- Yildirim, Ruken
- Unal, Edip
- Ciorraga, Maria
- Barruz, Pilar
- Chico, Lucia
- Piceci-Sparascio, Francesca
- Guida, Valentina
- De Luca, Alessandro
- Kayserili, Hülya
- Ullah, Irfan
- Burmeister, Margit
- Lapunzina, Pablo
- Ahmad, Wasim
- Morales, Aixa V
- Ruiz-Perez, Victor L
Producer: 20180524
In:
Human molecular genetics vol. 26
Availability: No items available.
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1439.
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Calcium activated nucleotidase 1 (CANT1) is critical for glycosaminoglycan biosynthesis in cartilage and endochondral ossification. [electronic resource] by
- Paganini, Chiara
- Monti, Luca
- Costantini, Rossella
- Besio, Roberta
- Lecci, Silvia
- Biggiogera, Marco
- Tian, Kun
- Schwartz, Jean-Marc
- Huber, Céline
- Cormier-Daire, Valérie
- Gibson, Beth G
- Pirog, Katarzyna A
- Forlino, Antonella
- Rossi, Antonio
Producer: 20200511
In:
Matrix biology : journal of the International Society for Matrix Biology vol. 81
Availability: No items available.
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1440.
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