(Q52604916)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29620724%20AND%20SRC:MED&resulttype=core&format=json

22 March 2020

title

Expanding the phenome and variome of skeletal dysplasia (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29620724%20AND%20SRC:MED&resulttype=core&format=json

22 March 2020

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29620724%20AND%20SRC:MED&resulttype=core&format=json

22 March 2020

Maha Zaki

35

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29620724%20AND%20SRC:MED&resulttype=core&format=json

22 March 2020

Mahmoud Fassad

36

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29620724%20AND%20SRC:MED&resulttype=core&format=json

22 March 2020

Yasser Sabr

39

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29620724%20AND%20SRC:MED&resulttype=core&format=json

22 March 2020

55

Ranad Shaheen

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29620724%20AND%20SRC:MED&resulttype=core&format=json

22 March 2020

16

Dorota Monies

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29620724%20AND%20SRC:MED&resulttype=core&format=json

22 March 2020

author name string

Sateesh Maddirevula

1

1 reference

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22 March 2020

Saud Alsahli

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29620724%20AND%20SRC:MED&resulttype=core&format=json

22 March 2020

Lamees Alhabeeb

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29620724%20AND%20SRC:MED&resulttype=core&format=json

22 March 2020

Nisha Patel

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29620724%20AND%20SRC:MED&resulttype=core&format=json

22 March 2020

Fatema Alzahrani

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29620724%20AND%20SRC:MED&resulttype=core&format=json

22 March 2020

Hanan E Shamseldin

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29620724%20AND%20SRC:MED&resulttype=core&format=json

22 March 2020

Shams Anazi

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29620724%20AND%20SRC:MED&resulttype=core&format=json

22 March 2020

Nour Ewida

8

1 reference

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22 March 2020

Hessa S Alsaif

9

1 reference

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22 March 2020

Jawahir Y Mohamed

10

1 reference

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22 March 2020

Anas M Alazami

11

1 reference

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22 March 2020

Niema Ibrahim

12

1 reference

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22 March 2020

Firdous Abdulwahab

13

1 reference

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22 March 2020

Mais Hashem

14

1 reference

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22 March 2020

Mohamed Abouelhoda

15

1 reference

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22 March 2020

Muneera Alshammari

18

1 reference

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22 March 2020

Afaf Alsagheir

19

1 reference

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22 March 2020

Mohammed Zain Seidahmed

20

1 reference

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22 March 2020

Samira Sogati

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29620724%20AND%20SRC:MED&resulttype=core&format=json

22 March 2020

Mona S Aglan

22

1 reference

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22 March 2020

Muddathir H Hamad

23

1 reference

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22 March 2020

Mustafa A Salih

24

1 reference

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22 March 2020

Ahlam A Hamed

25

1 reference

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22 March 2020

Nadia Alhashmi

26

1 reference

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22 March 2020

Amira Nabil

27

1 reference

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22 March 2020

Fatima Alfadli

28

1 reference

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22 March 2020

Ghada M H Abdel-Salam

29

1 reference

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22 March 2020

Hisham Alkuraya

30

1 reference

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22 March 2020

Winnie Ong Peitee

31

1 reference

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22 March 2020

W T Keng

32

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29620724%20AND%20SRC:MED&resulttype=core&format=json

22 March 2020

Abdullah Qasem

33

1 reference

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22 March 2020

Aziza M Mushiba

34

1 reference

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22 March 2020

Majid Alfadhel

37

1 reference

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22 March 2020

Saji Alexander

38

1 reference

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22 March 2020

Samia Temtamy

40

1 reference

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22 March 2020

Alka V Ekbote

41

1 reference

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22 March 2020

Samira Ismail

42

1 reference

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22 March 2020

Gamal Ahmed Hosny

43

1 reference

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22 March 2020

Ghada A Otaify

44

1 reference

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22 March 2020

Khalda Amr

45

1 reference

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22 March 2020

Saeed Al Tala

46

1 reference

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22 March 2020

Arif O Khan

47

1 reference

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22 March 2020

Tamer Rizk

48

1 reference

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22 March 2020

Aida Alaqeel

49

1 reference

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22 March 2020

Abdulmonem Alsiddiky

50

1 reference

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22 March 2020

Ankur Singh

51

1 reference

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22 March 2020

Seema Kapoor

52

1 reference

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22 March 2020

Amal Alhashem

53

1 reference

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22 March 2020

Eissa Faqeih

54

1 reference

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22 March 2020

Fowzan S Alkuraya

56

1 reference

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22 March 2020

language of work or name

English

0 references

publication date

5 April 2018

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29620724%20AND%20SRC:MED&resulttype=core&format=json

22 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29620724%20AND%20SRC:MED&resulttype=core&format=json

22 March 2020

volume

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29620724%20AND%20SRC:MED&resulttype=core&format=json

22 March 2020

issue

12

1 reference

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22 March 2020

page(s)

1609-1616

1 reference

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https://scigraph.springernature.com/pub.10.1038/gim.2018.50

22 March 2020

exact match

0 references

cites work

The skeletal dysplasias: clinical-molecular correlations

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Next-generation sequencing: a frameshift in skeletal dysplasia gene discovery

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The application of next-generation sequencing in the autozygosity mapping of human recessive diseases

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7 January 2021

Revisiting the morbid genome of Mendelian disorders

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7 January 2021

Accelerating matchmaking of novel dysmorphology syndromes through clinical and genomic characterization of a large cohort

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7 January 2021

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7 January 2021

Clinical genomics can facilitate countrywide estimation of autosomal recessive disease burden

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7 January 2021

Large-scale pooled next-generation sequencing of 1077 genes to identify genetic causes of short stature

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7 January 2021

Comprehensive genetic exploration of skeletal dysplasia using targeted exome sequencing.

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7 January 2021

Expanding the clinical, allelic, and locus heterogeneity of retinal dystrophies.

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7 January 2021

Novel phenotypes and loci identified through clinical genomics approaches to pediatric cataract

1 reference

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7 January 2021

Study of autosomal recessive osteogenesis imperfecta in Arabia reveals a novel locus defined by TMEM38B mutation

1 reference

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7 January 2021

Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield

1 reference

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7 January 2021

Osteogenesis imperfecta

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2018.50

7 January 2021

Impact of new genomic tools on the practice of clinical genetics in consanguineous populations: the Saudi experience

1 reference

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7 January 2021

WNT signalling in the immune system: WNT is spreading its wings

1 reference

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7 January 2021

Wnt proteins are lipid-modified and can act as stem cell growth factors

1 reference

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7 January 2021

Wnt and the Wnt signaling pathway in bone development and disease

1 reference

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7 January 2021

Wnt3a reestablishes osteogenic capacity to bone grafts from aged animals.

1 reference

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7 January 2021

WNT1 mutation with recessive osteogenesis imperfecta and profound neurological phenotype.

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7 January 2021

Osteopotentia regulates osteoblast maturation, bone formation, and skeletal integrity in mice

1 reference

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7 January 2021

Human pancreas protein 2 (PAN2) has a retinal reductase activity and is ubiquitously expressed in human tissues

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7 January 2021

Identification of a human cytoplasmic poly(A) nuclease complex stimulated by poly(A)-binding protein

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7 January 2021

Mutations in SMG9, Encoding an Essential Component of Nonsense-Mediated Decay Machinery, Cause a Multiple Congenital Anomaly Syndrome in Humans and Mice

1 reference

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7 January 2021

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1 reference

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7 January 2021

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1 reference

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7 January 2021

The zinc finger proteins ZNF644 and WIZ regulate the G9a/GLP complex for gene repression

1 reference

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7 January 2021

Loss of DIP2C in RKO cells stimulates changes in DNA methylation and epithelial-mesenchymal transition

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7 January 2021

GZF1 Mutations Expand the Genetic Heterogeneity of Larsen Syndrome

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7 January 2021

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1 reference

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7 January 2021

Identifiers

DOI

10.1038/GIM.2018.50

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29620724%20AND%20SRC:MED&resulttype=core&format=json

22 March 2020

1 reference