(Q44748521)

5 December 2017

A homozygous contiguous gene deletion in chromosome 16p13.3 leads to autosomal recessive osteopetrosis in a Jordanian patient (English)

1 reference

5 December 2017

1 reference

7

1 reference

5 December 2017

Alessandra Pangrazio

1

1 reference

5 December 2017

Annalisa Frattini

2

1 reference

5 December 2017

Roberto Valli

3

1 reference

5 December 2017

Emanuela Maserati

4

1 reference

5 December 2017

Lucia Susani

5

1 reference

5 December 2017

Paolo Vezzoni

6

1 reference

5 December 2017

Waleed Al-Herz

8

1 reference

5 December 2017

Cristina Sobacchi

9

1 reference

5 December 2017

language of work or name

English

0 references

publication date

31 July 2012

1 reference

Calcified Tissue International

5 December 2017

1 reference

5 December 2017

91

1 reference

5 December 2017

4

1 reference

5 December 2017

250-254

1 reference

https://scigraph.springernature.com/pub.10.1007/s00223-012-9631-4

5 December 2017

0 references

cites work

Infantile malignant, autosomal recessive osteopetrosis: the rich and the poor

1 reference

https://api.crossref.org/works/10.1007%2FS00223-012-9631-4

The array CGH and its clinical applications

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00223-012-9631-4

Molecular and clinical heterogeneity in CLCN7-dependent osteopetrosis: report of 20 novel mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00223-012-9631-4

Evaluating chromosomal mosaicism by array comparative genomic hybridization in hematological malignancies: the proposal of a formula

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00223-012-9631-4

Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00223-012-9631-4

Chromosomal 16p microdeletion in Rubinstein-Taybi syndrome detected by oligonucleotide-based array comparative genomic hybridization: a case report

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00223-012-9631-4

Refinement of the genetic cause of ATR-16.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00223-012-9631-4

The SWI/SNF protein BAF60b is ubiquitinated through a signalling process involving Rac GTPase and the RING finger protein Unkempt

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00223-012-9631-4

Congenital hypothyroidism.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00223-012-9631-4

Chloride channel ClCN7 mutations are responsible for severe recessive, dominant, and intermediate osteopetrosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00223-012-9631-4

Multiple congenital anomalies and developmental delay in a boy associated with a de novo 16p13.3 deletion

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00223-012-9631-4

10.1007/S00223-012-9631-4

21 January 2018

Identifiers

DOI

1 reference

5 December 2017

1 reference