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자료유형
- Academic Journals (702)
- Magazines (2)
주제
- mutation (95)
- abnormalities, multiple (72)
- intellectual disability (71)
주제

Count Name
- mutation (95)
- abnormalities, multiple (72)
- intellectual disability (71)
- gene (31)
- genetic predisposition to disease (25)
- phenotype (25)
- neurodevelopmental disorders (21)
- mutation, missense (20)
- expression (19)
- cardiomyopathy, dilated (18)
- dna (18)
- genetic testing (18)
- membrane proteins (17)
- dna-binding proteins (15)
- identification (15)
- mutations (15)
- proteins (15)
- brain (14)
- chromosome deletion (14)
- collagen (14)
- craniofacial abnormalities (14)
- deafness (14)
- genetic variation (14)
- myotonic dystrophy (14)
- exome (13)
- family (13)
- growth disorders (13)
- protein (13)
- transcription factors (13)
- breast neoplasms (12)
- dwarfism (12)
- ectodermal dysplasia (12)
- genetic diseases, inborn (12)
- genome, human (12)
- limb deformities, congenital (12)
- locus (12)
- nerve tissue proteins (12)
- developmental disabilities (11)
- disease (11)
- phosphoproteins (11)
- anomalies (10)
- genes, recessive (10)
- genetic linkage (10)
- genome-wide association study (10)
- linkage (10)
- trans-activators (10)
- deletion (9)
- hearing loss (9)
- hearing loss, sensorineural (9)
- mental-retardation (9)
닫기
간행물
- american journal of human genetics (112)
- journal of medical genetics (53)
- nature genetics (42)
간행물

Count Name
- american journal of human genetics (112)
- journal of medical genetics (53)
- nature genetics (42)
- european journal of human genetics ejhg (36)
- human molecular genetics (31)
- american journal of medical genetics (29)
- clinical genetics (19)
- genomics (19)
- human genetics (19)
- human mutation (19)
- american journal of medical genetics part a (18)
- clinical dysmorphology (11)
- genetics in medicine official journal of the american college of medical genetics (9)
- new england journal of medicine (9)
- nature communications (8)
- journal of clinical endocrinology & metabolism (7)
- european journal of human genetics (6)
- genetic counseling geneva switzerland (6)
- journal of clinical endocrinology and metabolism (6)
- laryngoscope (6)
- cell (5)
- familial cancer (5)
- human reproduction (5)
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- british journal of cancer (4)
- journal of clinical investigation (4)
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- international journal of pediatric otorhinolaryngology (2)
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- journal of endocrinology (2)
- journal of laryngology and otology (2)
- journal of pediatrics (2)
- neuropediatrics (2)
- pediatric neurology (2)
- pediatric research (2)
- european journal of cancer (1)
- international journal of psychology (1)
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- cell press (82)
- nature publishing group (55)
- wiley-liss (54)
출판사

Count Name
- cell press (82)
- nature publishing group (55)
- wiley-liss (54)
- univ chicago press (38)
- british medical association (33)
- nature pub. co (29)
- lippincott williams & wilkins (22)
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- medecine et hygiene (3)
- springer-verlag (3)
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- blackwell munksgaard (2)
- blackwell science ltd (2)
- chapman hall ltd (2)
- elsevier science inc (2)
- lancet ltd (2)
- nature publishing co (2)
- new england journal of medicine (2)
- oxford university press / usa (2)
- williams & wilkins (2)
- american psychiatric publishing, inc. (1)
- pergamon press - an imprint of elsevier science (1)
- psychology press (1)
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- english (699)
- dutch; flemish (4)
수록데이터베이스
- MEDLINE (484)
- Science Citation Index Expanded (203)
- CINAHL Plus with Full Text (7)
수록데이터베이스

Count Name
- MEDLINE (484)
- Science Citation Index Expanded (203)
- CINAHL Plus with Full Text (7)
- Complementary Index (5)
- Social Sciences Citation Index (3)
- Academic Search Complete (1)
- Supplemental Index (1)
닫기

PQDT
CAJ
RISS
PsycINFO

전체선택

Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss

학술저널

issue: HUMAN MUTATION; JUL 2006, 27 7, p633-p639, 7p.
Author: Kalay, E
Li, Y
Uzumcu, A
Uyguner, O
Collin, RW
Caylan, R
Ulubil-Emiroglu, M
Kersten, FFJ
Hafiz, G
van Wijk, E
Kayserili, H
Rohmann, E
Wagenstaller, J
Hoefsloot, LH
Strom, TM
Nurnberg, G
Baserer, N
den Hollander, AI
Cremers, FPM
Cremers, CWRJ
Becker, C
Brunner, HG
Nurnberg, P
Karaguzel, A
Basaran, S
Kubisch, C
Kremer, H
Wollnik, B
DB Label: Database : Science Citation Index Expanded

원문보기: 등재 - SCOPUS 조회 - Impact Factor (JCR) 등재 - Web of Science

Pattern of p63 mutations and their phenotypes- Update

학술저널

issue: AMERICAN JOURNAL OF MEDICAL GENETICS PART A; JUL 1 2006, 140A 13, p1396-p1406, 11p.
Author: Rinne, T
Hamel, B
van Bokhoven, H
Brunner, HG
DB Label: Database : Science Citation Index Expanded

원문보기: Full Text (Wiley-DB) 등재 - SCOPUS 조회 - Impact Factor (JCR) 등재 - Web of Science 원문복사신청 - RISS

The origin of EFNB1 mutations in craniofrontonasal syndrome: Frequent somatic mosaicism and explanation of the paucity of carrier males

학술저널

issue: AMERICAN JOURNAL OF HUMAN GENETICS; JUN 2006, 78 6, p999-p1010, 12p.
Author: Twigg, SRF
Matsumoto, K
Kidd, AMJ
Goriely, A
Taylor, IB
Fisher, RB
Hoogeboom, AJM
Mathijssen, IMJ
Lourenco, MT
Morton, JEV
Sweeney, E
Wilson, LC
Brunner, HG
Mulliken, JB
Wall, SA
Wilkie, AOM
DB Label: Database : Science Citation Index Expanded

원문보기: Full Text (ScienceDirect O/A) 등재 - SCOPUS 조회 - Impact Factor (JCR) 등재 - Web of Science 원문복사신청 - FRIC

A second locus for Aicardi-Goutieres syndrome at chromosome 13q14-21

학술저널

issue: JOURNAL OF MEDICAL GENETICS; MAY 2006, 43 5, p444-p450, 7p.
Author: Ali, M
Highet, LJ
Lacombe, D
Goizet, C
King, MD
Tacke, U
van der Knaap, MS
Lagae, L
Rittey, C
Brunner, HG
van Bokhoven, H
Hamel, B
Oade, YA
Sanchis, A
Desguerre, I
Cau, D
Mathieu, N
Moutard, ML
Lebon, P
Kumar, D
Jackson, AP
Crow, YJ
DB Label: Database : Science Citation Index Expanded

원문보기: 등재 - SCOPUS 조회 - Impact Factor (JCR) 등재 - Web of Science 원문복사신청 - FRIC

A text-mining analysis of the human phenome

학술저널

issue: EUROPEAN JOURNAL OF HUMAN GENETICS; MAY 2006, 14 5, p535-p542, 8p.
Author: van Driel, MA
Bruggeman, J
Vriend, G
Brunner, HG
Leunissen, JA
DB Label: Database : Science Citation Index Expanded

원문보기: Full Text (원문보기) 등재 - SCOPUS 조회 - Impact Factor (JCR) 등재 - Web of Science

The expanding phenotype of POMT1 mutations: From Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation

학술저널

issue: HUMAN MUTATION; MAY 2006, 27 5, p453-p459, 7p.
Author: Van Reeuwijk, J
Maugenre, S
van den Elzen, C
Verrips, A
Bertini, E
Muntoni, F
Merlini, L
Scheffer, H
Brunner, HG
Guicheney, P
van Bokhoven, H
DB Label: Database : Science Citation Index Expanded

원문보기: 등재 - SCOPUS 조회 - Impact Factor (JCR) 등재 - Web of Science

CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene

학술저널

issue: JOURNAL OF MEDICAL GENETICS; APR 2006, 43 4, p306-p314, 9p.
Author: Jongmans, MCJ
Admiraal, RJ
van der Donk, KP
Vissers, LELM
Baas, AF
Kapusta, L
van Hagen, JM
Donnai, D
de Ravel, TJ
Veltman, JA
van Kessel, AG
De Vries, BBA
Brunner, HG
Hoefsloot, LH
van Ravenswaaij, CMA
DB Label: Database : Science Citation Index Expanded

원문보기: 등재 - SCOPUS 조회 - Impact Factor (JCR) 등재 - Web of Science 원문복사신청 - FRIC

Mutations in different components of FGF signaling in LADD syndrome

학술저널

issue: NATURE GENETICS; APR 2006, 38 4, p414-p417, 4p.
Author: Rohmann, E
Brunner, HG
Kayserili, H
Uyguner, O
Nurnberg, G
Lew, ED
Dobbie, A
Eswarakumar, VP
Uzumcu, A
Ulubil-Emeroglu, M
Leroy, JG
Li, Y
Becker, C
Lehnerdt, K
Cremers, CWRJ
Yuksel-Apak, M
Nurnberg, P
Kubisch, C
Schlessinger, J
van Bokhoven, H
Wollnik, B
DB Label: Database : Science Citation Index Expanded

원문보기: Full Text (원문보기) Full Text (Nature) 등재 - SCOPUS 조회 - Impact Factor (JCR) 등재 - Web of Science

A novel D458V mutation in the SANS PDZ binding motif causes atypical Usher syndrome

학술저널

issue: JOURNAL OF MOLECULAR MEDICINE-JMM; DEC 2005, 83 12, p1025-p1032, 8p.
Author: Kalay, E
de Brouwer, APM
Caylan, R
Nabuurs, SB
Wollnik, B
Karaguzel, A
Heister, JGAM
Erdol, H
Cremers, FPM
Cremers, CWRJ
Brunner, HG
Kremer, H
DB Label: Database : Science Citation Index Expanded

원문보기: Full Text (Springer) 등재 - SCOPUS 조회 - Impact Factor (JCR) 등재 - Web of Science 원문복사신청 - RISS

POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome

학술저널

issue: JOURNAL OF MEDICAL GENETICS; DEC 2005, 42 12, p907-p912, 6p.
Author: van Reeuwijk, J
Janssen, M
van den Elzen, C
de Bernabe, DBV
Sabatelli, P
Merlini, L
Boon, M
Scheffer, H
Brockington, M
Muntoni, F
Huynen, MA
Verrips, A
Walsh, CA
Barth, PG
Brunner, HG
van Bokhoven, H
DB Label: Database : Science Citation Index Expanded

원문보기: 등재 - SCOPUS 조회 - Impact Factor (JCR) 등재 - Web of Science 원문복사신청 - FRIC

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