par Lüdecke, H J;Schaper, J;Meinecke, P;Momeni, P;Gross, Stephanie;von Holtum D, D;Hirche, H;Abramowicz, Marc 
;Albrecht, Beate;Apacik, Can;Christen, H J;Claussen, U;Devriendt, K;Fastnacht, E;Forderer, A;Friedrich, U;Goodship, T H;Greiwe, M;Hamm, H;Hennekam, R C;Hinkel, G K;Hoeltzenbein, M;Kayserili, H;Majewski, F;Mathieu, M;McLeod, R;Midro, A T;Moog, U;Nagai, T;Niikawa, N;Orstavik, K H;Plöchl, Elzbieta;Seitz, C;Schmidtke, J;Tranebjaerg, L;Tsukahara, M;Wittwer, B;Zabel, Bernhard;Gillessen-Kaesbach, G.;Horsthemke, B
Référence American journal of human genetics, 68, 1, page (81-91)
Publication Publié, 2001-01
;Albrecht, Beate;Apacik, Can;Christen, H J;Claussen, U;Devriendt, K;Fastnacht, E;Forderer, A;Friedrich, U;Goodship, T H;Greiwe, M;Hamm, H;Hennekam, R C;Hinkel, G K;Hoeltzenbein, M;Kayserili, H;Majewski, F;Mathieu, M;McLeod, R;Midro, A T;Moog, U;Nagai, T;Niikawa, N;Orstavik, K H;Plöchl, Elzbieta;Seitz, C;Schmidtke, J;Tranebjaerg, L;Tsukahara, M;Wittwer, B;Zabel, Bernhard;Gillessen-Kaesbach, G.;Horsthemke, BRéférence American journal of human genetics, 68, 1, page (81-91)
Publication Publié, 2001-01
Article révisé par les pairs
| Titre: |
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| Auteur: | Lüdecke, H J; Schaper, J; Meinecke, P; Momeni, P; Gross, Stephanie; von Holtum D, D; Hirche, H; Abramowicz, Marc; Albrecht, Beate; Apacik, Can; Christen, H J; Claussen, U; Devriendt, K; Fastnacht, E; Forderer, A; Friedrich, U; Goodship, T H; Greiwe, M; Hamm, H; Hennekam, R C; Hinkel, G K; Hoeltzenbein, M; Kayserili, H; Majewski, F; Mathieu, M; McLeod, R; Midro, A T; Moog, U; Nagai, T; Niikawa, N; Orstavik, K H; Plöchl, Elzbieta; Seitz, C; Schmidtke, J; Tranebjaerg, L; Tsukahara, M; Wittwer, B; Zabel, Bernhard; Gillessen-Kaesbach, G.; Horsthemke, B |
| Informations sur la publication: | American journal of human genetics, 68, 1, page (81-91) |
| Statut de publication: | Publié, 2001-01 |
| Sujet CREF: | Sciences bio-médicales et agricoles |
| MeSH keywords: | Adolescent |
| Adult | |
| Amino Acid Sequence | |
| Anthropometry | |
| Base Sequence | |
| Body Height | |
| Child | |
| Child, Preschool | |
| Chromosomes, Human, Pair 8 -- genetics | |
| DNA Mutational Analysis | |
| DNA-Binding Proteins -- metabolism | |
| Erythroid-Specific DNA-Binding Factors | |
| Exons -- genetics | |
| Female | |
| Genotype | |
| Humans | |
| Infant | |
| Limb Deformities, Congenital -- genetics | |
| Limb Deformities, Congenital -- pathology | |
| Limb Deformities, Congenital -- physiopathology | |
| Limb Deformities, Congenital -- radiography | |
| Male | |
| Middle Aged | |
| Molecular Sequence Data | |
| Mutation -- genetics | |
| Osteochondrodysplasias -- classification | |
| Osteochondrodysplasias -- genetics | |
| Osteochondrodysplasias -- pathology | |
| Osteochondrodysplasias -- radiography | |
| Pedigree | |
| Phenotype | |
| Polymorphism, Single Nucleotide -- genetics | |
| Syndrome | |
| Transcription Factors -- metabolism | |
| Zinc Fingers -- genetics | |
| Note générale: | Journal Article |
| Research Support, Non-U.S. Gov't | |
| SCOPUS: ar.j | |
| Langue: | Anglais |
| Identificateurs: | urn:issn:0002-9297 |
| info:doi/10.1086/316926 | |
| info:pii/S0002-9297(07)62473-2 | |
| info:scp/0035159093 | |
| info:pmid/11112658 | |
| PMC1234936 |
