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Diagnosis
Gana S,
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Am J Med Genet C Semin Med Genet
2022 Mar;190(1):72-88.
Epub 2022 Mar 3
doi: 10.1002/ajmg.c.31963.
PMID: 35238134Free PMC Article
Soussain C,
Malaise D,
Cassoux N
Blood
2021 Oct 28;138(17):1519-1534.
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PMID: 34036310
Fung AT,
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Jimenez I,
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Therapy
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Indian J Pediatr
2012 Jul;79(7):916-21.
Epub 2012 Mar 16
doi: 10.1007/s12098-012-0726-8.
PMID: 22421935
Prognosis
Gana S,
Serpieri V,
Valente EM
Am J Med Genet C Semin Med Genet
2022 Mar;190(1):72-88.
Epub 2022 Mar 3
doi: 10.1002/ajmg.c.31963.
PMID: 35238134Free PMC Article
Soussain C,
Malaise D,
Cassoux N
Blood
2021 Oct 28;138(17):1519-1534.
doi: 10.1182/blood.2020008235.
PMID: 34036310
Fung AT,
Galvin J,
Tran T
Clin Exp Ophthalmol
2021 Apr;49(3):289-308.
Epub 2021 Mar 24
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PMID: 33656784
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Clinical prediction guides
Mirzayev I,
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Galvin J,
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2021 Apr;49(3):289-308.
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PMID: 33656784
Nimmakayala RK,
Leon F,
Rachagani S,
Rauth S,
Nallasamy P,
Marimuthu S,
Shailendra GK,
Chhonker YS,
Chugh S,
Chirravuri R,
Gupta R,
Mallya K,
Prajapati DR,
Lele SM,
C Caffrey T,
L Grem J,
Grandgenett PM,
Hollingsworth MA,
Murry DJ,
Batra SK,
Ponnusamy MP
Oncogene
2021 Jan;40(1):215-231.
Epub 2020 Oct 27
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Jaiswal S,
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