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11 . Academic Journal
CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language
저자
by
Blok, Lot Snijders
;
Rousseau, Justine
;
Twist, Joanna
;
Ehresmann, Sophie
;
Takaku, Motoki
, et al.
소스
NATURE COMMUNICATIONS
; NOV 5 2018, 9 p4619 12p.
Scopus
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17 . Academic Journal
Further clinical and molecular delineation of the 15q24 microdeletion syndrome
저자
by
Mefford, Heather C
;
Rosenfeld, Jill A
;
Shur, Natasha
;
Slavotinek, Anne M
;
Cox, Victoria A
, et al.
소스
Journal of Medical Genetics
. Feb 01, 2012 49(2):110-118
Full Text (BMJ Journals)
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17 . Academic Journal
Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language
저자
by
Blok, Lot Snijders
;
Rousseau, Justine
;
Twist, Joanna
;
Ehresmann, Sophie
;
Takaku, Motoki
, et al.
소스
Nature Communications
. 10(1)
Web of Science
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17 . Academic Journal
CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language
저자
by
Snijders Blok, Lot
;
Rousseau, Justine
;
Twist, Joanna
;
Ehresmann, Sophie
;
Takaku, Motoki
, et al.
소스
Nature Communications
. 9(1)
Web of Science
Scopus
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17 . Book
Detection of Point Mutations by Denaturing-Gradient Gel Electrophoresis.
저자
by
Walker, John M.
;
Mathew, Christopher G.
;
Dlouhy, Stephen R.
;
Wheeler, Patricia
;
Trofatter, James A.
, et al.
소스
Protocols in Human Molecular Genetics; 1992, p95-110, 16p
Find it @ DONGA
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17 . Academic Journal
Eliminating FGM: The role of the law.
저자
by
Wheeler, Patricia
.
소스
International Journal of Children's Rights
. Jul2003, Vol. 11 Issue 3, p257-271. 15p. 1 Chart.
Full Text (Brill)
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13 . Academic Journal
A Comprehensive Mutation Analysis of RP2 and RPGR in a North American Cohort of Families with X-Linked Retinitis Pigmentosa.
저자
by
Breuer, Debra K.
;
Yashar, Beverly M.
;
Filippova, Elena
;
Hiriyanna, Suja
;
Lyons, Robert H.
, et al.
소스
American Journal of Human Genetics
. Jun2002, Vol. 70 Issue 6, p1545. 10p.
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17 .
Correction to: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language (Nature Communications, (2018), 9, 1, (4619), 10.1038/s41467-018-06014-6)
저자
by
Blok, Lot Snijders
;
Rousseau, Justine
;
Twist, Joanna
;
Ehresmann, Sophie
;
Takaku, Motoki
, et al.
소스
Open Access (OpenAIRE)
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17 .
The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome
저자
by
Karabey, Hülya Kayserili (ORCID 0000-0003-0376-499X & YÖK ID 7945)
;
van der Sluijs, Pleuntje J.
;
Jansen, Sandra
;
Vergano, Samantha A.
;
Adachi-Fukuda, Miho
, et al.
소스
Open Access (OpenAIRE)
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17 . Academic Journal
A Race Apart?
저자
by
Wheeler, Patricia
.
소스
36 Amicus Curiae 10 (2001) / Amicus Curiae, Vol. 36, pp. 10-12
Full Text (HeinOnline)
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