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1 . Academic Journal
Suggestive evidence for a new locus for epilepsy with heterogeneous phenotypes on chromosome 17q
저자
by
Sirén, Auli
;
Polvi, Anne
;
Chahine, Lyne
;
Labuda, Malgorzata
;
Bourgoin, Sarah
, et al.
소스
In
Epilepsy Research
2010 88(1):65-75
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7 . Academic Journal
PCM1 is necessary for focal ciliary integrity and is a candidate for severe schizophrenia.
저자
by
Monroe, Tanner O.
;
Garrett, Melanie E.
;
Kousi, Maria
;
Rodriguiz, Ramona M.
;
Moon, Sungjin
, et al.
소스
Nature Communications; 11/19/2020, Vol. 11 Issue 1, p1-14, 14p
Web of Science
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7 . Periodical
Evidence for secondary-variant genetic burden and non-random distribution across biological modules in a recessive ciliopathy
저자
by
Kousi, Maria
;
Söylemez, Onuralp
;
Ozanturk, Aysegül
;
Mourtzi, Niki
;
Akle, Sebastian
, et al.
소스
Nature Genetics; November 2020, Vol. 52 Issue: 11 p1145-1150, 6p
Web of Science
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7 . Periodical
Mutations in ATP13A2(PARK9) are associated with an amyotrophic lateral sclerosis-like phenotype, implicating this locus in further phenotypic expansion
저자
by
Spataro, Rossella
;
Kousi, Maria
;
Farhan, Sali
;
Willer, Jason
;
Ross, Jay
, et al.
소스
Human Genomics; December 2019, Vol. 13 Issue: 1 p1-10, 10p
Open Access (BioMed Central)
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7 . Academic Journal
Performance of computational methods for the evaluation of pericentriolar material 1 missense variants in CAGI‐5.
저자
by
Monzon, Alexander Miguel
;
Carraro, Marco
;
Chiricosta, Luigi
;
Reggiani, Francesco
;
Han, James
, et al.
소스
Human Mutation; Sep2019, Vol. 40 Issue 9, p1474-1485, 12p
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7 . Academic Journal
Neonatal Alexander Disease: Novel GFAP Mutation and Comparison to Previously Published Cases.
저자
by
Knuutinen, Oula
;
Kousi, Maria
;
Suo-Palosaari, Maria
;
Moilanen, Jukka S.
;
Tuominen, Hannu
, et al.
소스
Neuropediatrics
. 2018, Vol. 49 Issue 4, p256-261. 6p.
Web of Science
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7 . Academic Journal
RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes.
저자
by
Reijnders, Margot R.F.
;
Ansor, Nurhuda M.
;
Kousi, Maria
;
Yue, Wyatt W.
;
Tan, Perciliz L.
, et al.
소스
American Journal of Human Genetics
. Sep2017, Vol. 101 Issue 3, p466-477. 12p.
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7 . Academic Journal
ZNHIT3 is defective in PEHO syndrome, a severe encephalopathy with cerebellar granule neuron loss.
저자
by
Anttonen, Anna-Kaisa
;
Laari, Anni
;
Kousi, Maria
;
Yang, Yawei J.
;
Jääskeläinen, Tiina
, et al.
소스
Brain: A Journal of Neurology
. May2017, Vol. 140 Issue 5, p1267-1279. 13p.
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7 . Periodical
Transcriptome-wide association study of schizophrenia and chromatin activity yields mechanistic disease insights
저자
by
Gusev, Alexander
;
Mancuso, Nicholas
;
Won, Hyejung
;
Kousi, Maria
;
Finucane, Hilary K.
, et al.
소스
Nature Genetics; April 2018, Vol. 50 Issue: 4 p538-548, 11p
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7 . Academic Journal
The Genetic Basis of Hydrocephalus.
저자
by
Kousi, Maria
;
Katsanis, Nicholas
.
소스
Annual Review of Neuroscience
. Jul2016, Vol. 39, p409-435. 24p.
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