Rezultati iskanja Doummar, Diane

111.	VPS4A mutation in syndromic congenital hemolytic anemia without obvious signs of dyserythropoiesis Lunati, Ariane; Petit, Arnaud; Lapillonne, Hélène ... American journal of hematology, 04/2021, Letnik: 96, Številka: 4 Report	Celotno besedilo Dostopno za: BFBNIB, FZAB, GIS, IJS, KILJ, NLZOH, NUK, OILJ, SBCE, SBMB, UL, UM, UPUK PDF
112.	SHH medulloblastoma in a young adult with a TCF4 germline pathogenic variation Blanluet, Maud; Masliah-Planchon, Julien; Giurgea, Irina ... Acta neuropathologica, 04/2019, Letnik: 137, Številka: 4 Report	Celotno besedilo Dostopno za: EMUNI, FIS, FZAB, GEOZS, GIS, IJS, IMTLJ, KILJ, KISLJ, MFDPS, NLZOH, NUK, OBVAL, OILJ, PNG, SAZU, SBCE, SBJE, SBMB, SBNM, UKNU, UL, UM, UPUK, VKSCE, ZAGLJ PDF
113.	A Novel Homozygous TBC1D24 Mutation Causing Multifocal Myoclonus With Cerebellar Involvement Doummar, Diane; Mignot, Cyril; Apartis, Emmanuelle ... Movement disorders : official journal of the Movement Disorder Society, 09/2015, Letnik: 30, Številka: 10 Report	Celotno besedilo Dostopno za: BFBNIB, FZAB, GIS, IJS, KILJ, NLZOH, NUK, OILJ, SBCE, SBMB, UL, UM, UPUK PDF
114.	Management of Severe Developmental Regression in an Autistic Child with a 1q21.3 Microdeletion and Self-Injurious Blindness Cravero, Cora; Guinchat, Vincent; Xavier, Jean ... Case reports in psychiatry, 01/2017, Letnik: 2017 Report	Celotno besedilo Dostopno za: FZAB, GIS, IJS, IZUM, KILJ, NLZOH, NUK, OILJ, PILJ, PNG, SAZU, SBCE, SBMB, UL, UM, UPUK PDF
115.	Les neuropathies optiques aiguës « idiopathiques » de l'enfant. Discussion HAMARD, Henry; HAMARD, Pascale; GAUTIER, Jean-Claude ... Bulletin de l'Académie nationale de médecine, 2000, Letnik: 184, Številka: 7 Conference Proceeding Recenzirano	Celotno besedilo Dostopno za: NUK, UL, UM, UPUK

111.

VPS4A mutation in syndromic congenital hemolytic anemia without obvious signs of dyserythropoiesis
Lunati, Ariane; Petit, Arnaud; Lapillonne, Hélène ... American journal of hematology, 04/2021, Letnik: 96, Številka: 4
Report

Dostopno za: BFBNIB, FZAB, GIS, IJS, KILJ, NLZOH, NUK, OILJ, SBCE, SBMB, UL, UM, UPUK

112.

SHH medulloblastoma in a young adult with a TCF4 germline pathogenic variation
Blanluet, Maud; Masliah-Planchon, Julien; Giurgea, Irina ... Acta neuropathologica, 04/2019, Letnik: 137, Številka: 4
Report

Dostopno za: EMUNI, FIS, FZAB, GEOZS, GIS, IJS, IMTLJ, KILJ, KISLJ, MFDPS, NLZOH, NUK, OBVAL, OILJ, PNG, SAZU, SBCE, SBJE, SBMB, SBNM, UKNU, UL, UM, UPUK, VKSCE, ZAGLJ

PDF

113.

A Novel Homozygous TBC1D24 Mutation Causing Multifocal Myoclonus With Cerebellar Involvement
Doummar, Diane; Mignot, Cyril; Apartis, Emmanuelle ... Movement disorders : official journal of the Movement Disorder Society, 09/2015, Letnik: 30, Številka: 10
Report

Celotno besedilo

Dostopno za: BFBNIB, FZAB, GIS, IJS, KILJ, NLZOH, NUK, OILJ, SBCE, SBMB, UL, UM, UPUK

PDF

114.

Management of Severe Developmental Regression in an Autistic Child with a 1q21.3 Microdeletion and Self-Injurious Blindness
Cravero, Cora; Guinchat, Vincent; Xavier, Jean ... Case reports in psychiatry, 01/2017, Letnik: 2017
Report

Celotno besedilo

Dostopno za: FZAB, GIS, IJS, IZUM, KILJ, NLZOH, NUK, OILJ, PILJ, PNG, SAZU, SBCE, SBMB, UL, UM, UPUK

PDF

115.

Les neuropathies optiques aiguës « idiopathiques » de l'enfant. Discussion
HAMARD, Henry; HAMARD, Pascale; GAUTIER, Jean-Claude ... Bulletin de l'Académie nationale de médecine, 2000, Letnik: 184, Številka: 7
Conference Proceeding

Recenzirano

Celotno besedilo

Dostopno za: NUK, UL, UM, UPUK

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