(Q44523764)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27065010%20AND%20SRC:MED&resulttype=core&format=json

1 April 2020

title

Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseases (English)

1 reference

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1 April 2020

16

1 reference

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1 April 2020

Thomas J. Hudson

22

1 reference

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1 April 2020

Rong Chen

1

1 reference

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1 April 2020

Jianguo Zhang

6

1 reference

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1 April 2020

Lifeng Tian

8

1 reference

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1 April 2020

Yulan Shen

15

1 reference

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1 April 2020

Jason Bobe

20

1 reference

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1 April 2020

Stephen Friend

30

1 reference

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1 April 2020

23

Leif Groop

1 reference

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1 April 2020

25

Hakon Hakonarson

1 reference

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1 April 2020

29

Eric E Schadt

1 reference

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1 April 2020

5

Pamela Sklar

1 reference

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1 April 2020

26

Anne Wojcicki

1 reference

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1 April 2020

14

Hardik Shah

1 reference

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1 April 2020

author name string

Lisong Shi

2

1 reference

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1 April 2020

Jörg Hakenberg

3

1 reference

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1 April 2020

Brian Naughton

4

1 reference

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1 April 2020

Hanlin Zhou

7

1 reference

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1 April 2020

Om Prakash

9

1 reference

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1 April 2020

Mathieu Lemire

10

1 reference

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1 April 2020

Patrick Sleiman

11

1 reference

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1 April 2020

Wei-Yi Cheng

12

1 reference

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1 April 2020

Wanting Chen

13

1 reference

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1 April 2020

Larsson Omberg

17

1 reference

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1 April 2020

Matthew A Deardorff

18

1 reference

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1 April 2020

Elissa Levin

21

1 reference

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1 April 2020

Jun Wang

24

1 reference

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1 April 2020

George A Diaz

27

1 reference

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1 April 2020

Lisa Edelmann

28

1 reference

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1 April 2020

Elaine Zackai

19

1 reference

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1 April 2020

publication date

11 April 2016

1 reference

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1 April 2020

1 reference

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1 April 2020

volume

34

1 reference

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1 April 2020

issue

5

1 reference

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1 April 2020

page(s)

531-538

1 reference

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https://scigraph.springernature.com/pub.10.1038/nbt.3514

1 April 2020

exact match

0 references

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

1 reference

Carnitine palmitoyltransferase IA polymorphism P479L is common in Greenland Inuit and is associated with elevated plasma apolipoprotein A-I

21 January 2018

1 reference

A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening

21 January 2018

1 reference

Cross-sectional early mitral flow-velocity profiles from color Doppler in patients with mitral valve disease

21 January 2018

1 reference

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21 January 2018

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21 January 2018

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No evidence of mutations in four candidate genes for male sex determination/differentiation in sex-reversed XY females with campomelic dysplasia

21 January 2018

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12 December 2020

Novel SIL1 mutations in consanguineous Pakistani families mapping to chromosomes 5q31

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12 December 2020

Spectrum of CFTR mutations on Réunion Island: impact on neonatal screening

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12 December 2020

Revertant mosaicism due to a second-site mutation in COL7A1 in a patient with recessive dystrophic epidermolysis bullosa

1 reference

12 December 2020

Genetic reversion in an acute myelogenous leukemia cell line from a Fanconi anemia patient with biallelic mutations in BRCA2

1 reference

12 December 2020

Analysis of protein-coding genetic variation in 60,706 humans

1 reference

12 December 2020

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12 December 2020