(Q48923695)

16 February 2018

title

Whole exome sequencing unravels disease-causing genes in consanguineous families in Qatar (English)

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16 February 2018

author

Jeremy Schwartzentruber

8

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author name string

S Fahiminiya

1

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M Almuriekhi

2

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Z Nawaz

3

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A Staffa

4

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P Lepage

5

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R Ali

6

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L Hashim

7

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K Abu Khadija

9

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S Zaineddin

10

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H Gamal

11

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J Majewski

12

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T Ben-Omran

13

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publication date

13 October 2013

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16 February 2018

published in

Clinical Genetics

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16 February 2018

volume

86

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issue

2

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page(s)

134-141

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16 February 2018

Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA

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Autosomal recessive liver phosphorylase kinase deficiency caused by a novel splice-site mutation in the gene encoding the liver gamma subunit (PHKG2).

21 January 2018

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Identification of human tRNA:m5C methyltransferase catalysing intron-dependent m5C formation in the first position of the anticodon of the pre-tRNA Leu (CAA)

21 January 2018

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Widespread occurrence of 5-methylcytosine in human coding and non-coding RNA

21 January 2018

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Mutations in NSUN2 cause autosomal-recessive intellectual disability.

21 January 2018

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Mutation in NSUN2, which encodes an RNA methyltransferase, causes autosomal-recessive intellectual disability

21 January 2018

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Whole exome sequencing identifies a splicing mutation in NSUN2 as a cause of a Dubowitz-like syndrome

21 January 2018

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The RNA-methyltransferase Misu (NSun2) poises epidermal stem cells to differentiate

21 January 2018

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Lysosomal storage diseases

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alpha-L-iduronidase mutations (Q70X and P533R) associate with a severe Hurler phenotype.

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PHEX analysis in 118 pedigrees reveals new genetic clues in hypophosphatemic rickets.

21 January 2018

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Mutational analysis of PHEX, FGF23, DMP1, SLC34A3 and CLCN5 in patients with hypophosphatemic rickets.

21 January 2018

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Novel and de novo PHEX mutations in patients with hypophosphatemic rickets

21 January 2018

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21 January 2018

Identifiers

DOI

10.1111/CGE.12280

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16 February 2018

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16 February 2018