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Studies

2191 Case Reports

1859 Unclassified

737 Research

395 Reviews

272 Other Trials

190 Advanced Trials

82 Early Trials

9 Meta-Analysis

Guidelines

1 Cochrane

1 Consensuses

1 Guidelines

Congresses

393 Abstracts

1

Research

Mutations of the TWIST gene in the Saethre-Chotzen syndrome.

el Ghouzzi V, Le Merrer M, Perrin-Schmitt F, Lajeunie E, Benit P ...

Nature genetics Vol 15(1)

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Date 01 Jan 1997

Institutional score
0.00
Impact
2459.31

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Date 01 Jan 1997

Institutional score
0.00
Impact
2459.31
2

Research

Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation.

Lalani Seema R, Safiullah Arsalan M, Fernbach Susan D, Harutyunyan Karine G, Thaller Christina ...

American journal of human genetics Vol 78(2)

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Date 01 Feb 2006

Institutional score
39.78
Impact
196.14

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Date 01 Feb 2006

Institutional score
39.78
Impact
196.14
3

Research

Identification of the functional profilin gene, its localization to chromosome subband 17p13.3, and demonstration of its deletion in some patients wit...

Kwiatkowski D J, Aklog L, Ledbetter D H, Morton C C

American journal of human genetics Vol 46(3)

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Date 01 Mar 1990

Institutional score
140.34
Impact
196.14

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Date 01 Mar 1990

Institutional score
140.34
Impact
196.14
4

Research

Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations.

Paznekas W A, Cunningham M L, Howard T D, Korf B R, Lipson M H ...

American journal of human genetics Vol 62(6)

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Date 01 Jun 1998

Institutional score
0.00
Impact
196.14

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Date 01 Jun 1998

Institutional score
0.00
Impact
196.14
5

Research

22q13.2q13.32 genomic regions associated with severity of speech delay, developmental delay, and physical features in Phelan-McDermid syndrome.

Sarasua Sara M, Dwivedi Alka, Boccuto Luigi, Chen Chin-Fu, Sharp Julia L ...

Genetics in medicine : official journal of the American College of Med... Vol 16(4)

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Date 01 Apr 2014

Institutional score
16.31
Impact
157.49

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Date 01 Apr 2014

Institutional score
16.31
Impact
157.49
6

Research

Face-brain asymmetry in autism spectrum disorders.

Hammond P, Forster-Gibson C, Chudley A E, Allanson J E, Hutton T J ...

Molecular psychiatry Vol 13(6)

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Date 01 Jun 2008

Institutional score
0.00
Impact
140.84

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Date 01 Jun 2008

Institutional score
0.00
Impact
140.84
7

Research

Prior knowledge promotes hippocampal separation but cortical assimilation in the left inferior frontal gyrus.

Bein Oded, Reggev Niv, Maril Anat

Nature communications Vol 11(1)

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Date 14 Sep 2020

Institutional score
87.74
Impact
129.76

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Date 14 Sep 2020

Institutional score
87.74
Impact
129.76
8

Research

Rare events in earth history include the LB1 human skeleton from Flores, Indonesia, as a developmental singularity, not a unique taxon.

Eckhardt Robert B, Henneberg Maciej, Weller Alex S, Hsü Kenneth J

Proceedings of the National Academy of Sciences of the United States o... Vol 111(33)

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Date 19 Aug 2014

Institutional score
72.21
Impact
128.92

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Date 19 Aug 2014

Institutional score
72.21
Impact
128.92
9

Research

Craniosynostosis in the Middle Pleistocene human Cranium 14 from the Sima de los Huesos, Atapuerca, Spain.

Gracia Ana, Arsuaga Juan Luis, Martínez Ignacio, Lorenzo Carlos, Carretero José Miguel ...

Proceedings of the National Academy of Sciences of the United States o... Vol 106(16)

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Date 21 Apr 2009

Institutional score
0.00
Impact
128.92

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Date 21 Apr 2009

Institutional score
0.00
Impact
128.92
10

Research

Whole-agent selectivity within the macaque face-processing system.

Fisher Clark, Freiwald Winrich A

Proceedings of the National Academy of Sciences of the United States o... Vol 112(47)

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Date 24 Nov 2015

Institutional score
42.02
Impact
128.92

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Date 24 Nov 2015

Institutional score
42.02
Impact
128.92

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