Results
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1261.
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1262.
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NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases. [electronic resource] by
- El Hokayem, Joyce
- Huber, Céline
- Couvé, Adeline
- Aziza, Jacqueline
- Baujat, Geneviève
- Bouvier, Raymonde
- Cavalcanti, Denise P
- Collins, Felicity A
- Cordier, Marie-Pierre
- Delezoide, Anne-Lise
- Gonzales, Marie
- Johnson, Diana
- Le Merrer, Martine
- Levy-Mozziconacci, Annie
- Loget, Philippe
- Martin-Coignard, Dominique
- Martinovic, Jelena
- Mortier, Geert R
- Perez, Marie-José
- Roume, Joëlle
- Scarano, Gioacchino
- Munnich, Arnold
- Cormier-Daire, Valérie
Producer: 20120810
In:
Journal of medical genetics vol. 49
Availability: No items available.
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1263.
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Atypical clinical picture of the Nijmegen breakage syndrome associated with developmental abnormalities of the brain. [electronic resource] by
- Chrzanowska, K H
- Stumm, M
- Bekiesiska-Figatowska, M
- Varon, R
- Biaecka, M
- Gregorek, H
- Michakiewicz, J
- Krajewska-Walasek, M
- Jówiak, S
- Reis, A
Producer: 20010510
In:
Journal of medical genetics vol. 38
Availability: No items available.
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1264.
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1265.
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1266.
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ESCRT-II/Vps25 constrains digit number by endosome-mediated selective modulation of FGF-SHH signaling. [electronic resource] by
- Handschuh, Karen
- Feenstra, Jennifer
- Koss, Matthew
- Ferretti, Elisabetta
- Risolino, Maurizio
- Zewdu, Rediet
- Sahai, Michelle A
- Bénazet, Jean-Denis
- Peng, Xiao P
- Depew, Michael J
- Quintana, Laura
- Sharpe, James
- Wang, Baolin
- Alcorn, Heather
- Rivi, Roberta
- Butcher, Stephen
- Manak, J Robert
- Vaccari, Thomas
- Weinstein, Harel
- Anderson, Kathryn V
- Lacy, Elizabeth
- Selleri, Licia
Producer: 20150724
In:
Cell reports vol. 9
Availability: No items available.
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1267.
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1268.
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WDR34 mutations that cause short-rib polydactyly syndrome type III/severe asphyxiating thoracic dysplasia reveal a role for the NF-κB pathway in cilia. [electronic resource] by
- Huber, Céline
- Wu, Sulin
- Kim, Ashley S
- Sigaudy, Sabine
- Sarukhanov, Anna
- Serre, Valérie
- Baujat, Genevieve
- Le Quan Sang, Kim-Hanh
- Rimoin, David L
- Cohn, Daniel H
- Munnich, Arnold
- Krakow, Deborah
- Cormier-Daire, Valérie
Producer: 20131230
In:
American journal of human genetics vol. 93
Availability: No items available.
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1269.
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1270.
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1271.
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1272.
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Linkage mapping and phenotypic analysis of autosomal dominant Pallister-Hall syndrome. [electronic resource] by
- Kang, S
- Allen, J
- Graham, J M
- Grebe, T
- Clericuzio, C
- Patronas, N
- Ondrey, F
- Green, E
- Schäffer, A
- Abbott, M
- Biesecker, L G
Producer: 19970822
In:
Journal of medical genetics vol. 34
Availability: No items available.
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1273.
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1274.
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1275.
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1276.
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1277.
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1278.
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Cutaneous granulomas with primary immunodeficiency in children: a report of 17 new patients and a review of the literature. [electronic resource] by
- Leclerc-Mercier, S
- Moshous, D
- Neven, B
- Mahlaoui, N
- Martin, L
- Pellier, I
- Blanche, S
- Picard, C
- Fischer, A
- Perot, P
- Eloit, M
- Fraitag, S
- Bodemer, C
Producer: 20200115
In:
Journal of the European Academy of Dermatology and Venereology : JEADV vol. 33
Availability: No items available.
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1279.
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1280.
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