• Citer

Expanding the phenotype of NUP85 mutations beyond nephrotic syndrome to primary autosomal recessive microcephaly and Seckel syndrome spectrum disorders

par Ravindran, Ethiraj;Juhlen, Ramona Gabriele ;Vieira-Vieira, Carlos C.H.;Ha, Thuong;Salzberg, Yuval;Fichtman, Boris;Luise-Becker, Lena;Martins, Nuno N.M.;Picker-Minh, Sylvie;Bessa, Paraskevi;Arts, Peer;Jackson, Matilda M.R.;Taranath, Ajay;Kamien, Benjamin;Barnett, Christopher;Li, Na;Tarabykin, Victor;Stoltenburg-Didinger, Gisela;Harel, Amnon;Selbach, Matthias;Dickmanns, Achim;Fahrenkrog, Birthe ;Hu, Hao;Scott, Hamish;Kaindl, Angela A.M.
Référence Human molecular genetics, 30, 22, page (2068-2081)
Publication Publié, 2021-11

Article révisé par les pairs

• Détails
• Contenu

Titre:	Expanding the phenotype of NUP85 mutations beyond nephrotic syndrome to primary autosomal recessive microcephaly and Seckel syndrome spectrum disorders
Auteur:	Ravindran, Ethiraj; Juhlen, Ramona Gabriele; Vieira-Vieira, Carlos C.H.; Ha, Thuong; Salzberg, Yuval; Fichtman, Boris; Luise-Becker, Lena; Martins, Nuno N.M.; Picker-Minh, Sylvie; Bessa, Paraskevi; Arts, Peer; Jackson, Matilda M.R.; Taranath, Ajay; Kamien, Benjamin; Barnett, Christopher; Li, Na; Tarabykin, Victor; Stoltenburg-Didinger, Gisela; Harel, Amnon; Selbach, Matthias; Dickmanns, Achim; Fahrenkrog, Birthe; Hu, Hao; Scott, Hamish; Kaindl, Angela A.M.
Informations sur la publication:	Human molecular genetics, 30, 22, page (2068-2081)
Statut de publication:	Publié, 2021-11
Sujet CREF:	Biologie
	Biologie moléculaire
	Génétique clinique
Note générale:	SCOPUS: ar.j
	DecretOANoAutActif
Langue:	Anglais
Identificateurs:	urn:issn:0964-6906
	info:doi/10.1093/hmg/ddab160
	info:scp/85119418880
	info:pmid/34170319