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MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study
- Makrythanasis, P (author)
- van Bon, BW (author)
- Steehouwer, M (author)
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- Rodriguez-Santiago, B (author)
- Simpson, M (author)
- Dias, P (author)
- Arts, P (author)
- Bhat, M (author)
- Augello, B (author)
- Biamino, E (author)
- Bongers, EMHF (author)
- del Campo, M (author)
- Cordeiro, I (author)
- Cueto-Gonzalez, A (author)
- Cusco, I (author)
- Deshpande, C (author)
- Frysira, E (author)
- Izatt, L (author)
- Flores, R (author)
- Galan, E (author)
- Gener, B (author)
- Gilissen, C (author)
- Granneman, SM (author)
- Hoyer, J (author)
- Yntema, HG (author)
- Kets, CM (author)
- Koolen, DA (author)
- Marcelis, CL (author)
- Medeira, A (author)
- Micale, L (author)
- Mohammed, S (author)
- de Munnik, SA (author)
- Psoni, S (author)
- Reardon, W (author)
- Revencu, N (author)
- Roscioli, T (author)
- Ruiterkamp-Versteeg, M (author)
- Santos, H (author)
- Schoumans, J (author)
- Schuurs-Hoeijmakers, JHM (author)
- Silengo, MC (author)
- Toledo, L (author)
- Vendrell, T (author)
- van der Burgt, I (author)
- van Lier, B (author)
- Zweier, C (author)
- Reymond, A (author)
- Trembath, RC (author)
- Perez-Jurado, L (author)
- Dupont, J (author)
- de Vries, BBA (author)
- Brunner, HG (author)
- Veltman, JA (author)
- Merla, G (author)
- Antonarakis, SE (author)
- Hoischen, A (author)
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- (creator_code:org_t)
- 2013-04-26
- 2013
- English.
- In: Clinical genetics. - : Wiley. - 1399-0004 .- 0009-9163. ; 84:6, s. 539-545
- Journal article (peer-reviewed)
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Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Neurovetenskaper (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Neurosciences (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
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- ref (subject category)
- art (subject category)
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- Makrythanasis, P
- van Bon, BW
- Steehouwer, M
- Rodriguez-Santia ...
- Simpson, M
- Dias, P
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- Anderlid, BM
- Arts, P
- Bhat, M
- Augello, B
- Biamino, E
- Bongers, EMHF
- del Campo, M
- Cordeiro, I
- Cueto-Gonzalez, ...
- Cusco, I
- Deshpande, C
- Frysira, E
- Izatt, L
- Flores, R
- Galan, E
- Gener, B
- Gilissen, C
- Granneman, SM
- Hoyer, J
- Yntema, HG
- Kets, CM
- Koolen, DA
- Marcelis, CL
- Medeira, A
- Micale, L
- Mohammed, S
- de Munnik, SA
- Nordgren, A
- Psoni, S
- Reardon, W
- Revencu, N
- Roscioli, T
- Ruiterkamp-Verst ...
- Santos, H
- Schoumans, J
- Schuurs-Hoeijmak ...
- Silengo, MC
- Toledo, L
- Vendrell, T
- van der Burgt, I
- van Lier, B
- Zweier, C
- Reymond, A
- Trembath, RC
- Perez-Jurado, L
- Dupont, J
- de Vries, BBA
- Brunner, HG
- Veltman, JA
- Merla, G
- Antonarakis, SE
- Hoischen, A
- show less...
- About the subject
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- MEDICAL AND HEALTH SCIENCES
- MEDICAL AND HEAL ...
- and Basic Medicine
- and Neurosciences
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- MEDICAL AND HEALTH SCIENCES
- MEDICAL AND HEAL ...
- and Basic Medicine
- and Medical Genetics
- Articles in the publication
- Clinical genetic ...
- By the university
- Karolinska Institutet
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