SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females

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MARC

Radio, FC (author)

SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females

Article/chapterEnglish2021

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Elsevier BV,2021

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LIBRIS-ID:oai:prod.swepub.kib.ki.se:146295590
http://kipublications.ki.se/Default.aspx?queryparsed=id:146295590URI
https://doi.org/10.1016/j.ajhg.2021.01.015DOI

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Language:English

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Subject category:ref swepub-contenttype
Subject category:art swepub-publicationtype

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Pang, KF (author)
Ciolfi, A (author)
Levy, MA (author)
Hernandez-Garcia, A (author)
Pedace, L (author)
Pantaleoni, F (author)
Liu, ZD (author)
de Boer, E (author)
Jackson, A (author)
Bruselles, A (author)
McConkey, H (author)
Stellacci, E (author)
Lo Cicero, S (author)
Motta, M (author)
Carrozzo, R (author)
Dentici, ML (author)
McWalter, K (author)
Desai, M (author)
Monaghan, KG (author)
Telegrafi, A (author)
Philippe, C (author)
Vitobello, A (author)
Au, M (author)
Grand, K (author)
Sanchez-Lara, PA (author)
Baez, J (author)
Lindstrom, K (author)
Kulch, P (author)
Sebastian, J (author)
Madan-Khetarpal, S (author)
Roadhouse, C (author)
MacKenzie, JJ (author)
Monteleone, B (author)
Saunders, CJ (author)
Cuevas, JKJ (author)
Cross, L (author)
Zhou, DH (author)
Hartley, T (author)
Sawyer, SL (author)
Monteiro, FP (author)
Secches, TV (author)
Kok, F (author)
Schultz-Rogers, LE (author)
Macke, EL (author)
Morava, E (author)
Klee, EW (author)
Kemppainen, J (author)
Iascone, M (author)
Selicorni, A (author)
Tenconi, R (author)
Amor, DJ (author)
Pais, L (author)
Gallacher, L (author)
Turnpenny, PD (author)
Stals, K (author)
Ellard, S (author)
Cabet, S (author)
Lesca, G (author)
Pascal, J (author)
Steindl, K (author)
Ravid, S (author)
Weiss, K (author)
Castle, AMR (author)
Carter, MT (author)
Kalsner, L (author)
de Vries, BBA (author)
van Bon, BW (author)
Wevers, MR (author)
Pfundt, R (author)
Stegmann, APA (author)
Kerr, B (author)
Kingston, HM (author)
Chandler, KE (author)
Sheehan, W (author)
Elias, AF (author)
Shinde, DN (author)
Towne, MC (author)
Robin, NH (author)
Goodloe, D (author)
Vanderver, A (author)
Sherbini, O (author)
Bluske, K (author)
Hagelstrom, RT (author)
Zanus, C (author)
Faletra, F (author)
Musante, L (author)
Kurtz-Nelson, EC (author)
Earl, RK (author)
Anderlid, BMKarolinska Institutet (author)
Morin, G (author)
van Slegtenhorst, M (author)
Diderich, KEM (author)
Brooks, AS (author)
Gribnau, J (author)
Boers, RG (author)
Finestra, TR (author)
Carter, LB (author)
Rauch, A (author)
Gasparini, P (author)
Boycott, KM (author)
Barakat, TS (author)
Graham, JM (author)
Faivre, L (author)
Banka, S (author)
Wang, TY (author)
Eichler, EE (author)
Priolo, M (author)
Dallapiccola, B (author)
Vissers, LELM (author)
Sadikovic, B (author)
Scott, DA (author)
Holder, JL (author)
Tartaglia, M (author)
Karolinska Institutet (creator_code:org_t)

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In:American journal of human genetics: Elsevier BV108:3, s. 502-5161537-66050002-9297

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By the author/editor: Radio, FC; Pang, KF; Ciolfi, A; Levy, MA; Hernandez-Garcia ...; Pedace, L; show more...; Pantaleoni, F; Liu, ZD; de Boer, E; Jackson, A; Bruselles, A; McConkey, H; Stellacci, E; Lo Cicero, S; Motta, M; Carrozzo, R; Dentici, ML; McWalter, K; Desai, M; Monaghan, KG; Telegrafi, A; Philippe, C; Vitobello, A; Au, M; Grand, K; Sanchez-Lara, PA; Baez, J; Lindstrom, K; Kulch, P; Sebastian, J; Madan-Khetarpal, ...; Roadhouse, C; MacKenzie, JJ; Monteleone, B; Saunders, CJ; Cuevas, JKJ; Cross, L; Zhou, DH; Hartley, T; Sawyer, SL; Monteiro, FP; Secches, TV; Kok, F; Schultz-Rogers, ...; Macke, EL; Morava, E; Klee, EW; Kemppainen, J; Iascone, M; Selicorni, A; Tenconi, R; Amor, DJ; Pais, L; Gallacher, L; Turnpenny, PD; Stals, K; Ellard, S; Cabet, S; Lesca, G; Pascal, J; Steindl, K; Ravid, S; Weiss, K; Castle, AMR; Carter, MT; Kalsner, L; de Vries, BBA; van Bon, BW; Wevers, MR; Pfundt, R; Stegmann, APA; Kerr, B; Kingston, HM; Chandler, KE; Sheehan, W; Elias, AF; Shinde, DN; Towne, MC; Robin, NH; Goodloe, D; Vanderver, A; Sherbini, O; Bluske, K; Hagelstrom, RT; Zanus, C; Faletra, F; Musante, L; Kurtz-Nelson, EC; Earl, RK; Anderlid, BM; Morin, G; van Slegtenhorst ...; Diderich, KEM; Brooks, AS; Gribnau, J; Boers, RG; Finestra, TR; Carter, LB; Rauch, A; Gasparini, P; Boycott, KM; Barakat, TS; Graham, JM; Faivre, L; Banka, S; Wang, TY; Eichler, EE; Priolo, M; Dallapiccola, B; Vissers, LELM; Sadikovic, B; Scott, DA; Holder, JL; Tartaglia, M; show less...

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