(Q56568065)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26264464%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

title

'Splitting versus lumping': Temple-Baraitser and Zimmermann-Laband Syndromes (English)

1 reference

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22 February 2020

2

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22 February 2020

author name string

Nuria C Bramswig

1

1 reference

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22 February 2020

J C Czeschik

3

1 reference

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22 February 2020

A J van Essen

4

1 reference

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22 February 2020

R Pfundt

5

1 reference

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22 February 2020

J Smeitink

6

1 reference

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22 February 2020

B T Poll-The

7

1 reference

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22 February 2020

H Engels

8

1 reference

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22 February 2020

T M Strom

9

1 reference

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22 February 2020

D Wieczorek

10

1 reference

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22 February 2020

T Kleefstra

11

1 reference

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22 February 2020

H-J Lüdecke

12

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22 February 2020

publication date

12 August 2015

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22 February 2020

1 reference

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22 February 2020

volume

134

1 reference

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22 February 2020

issue

10

1 reference

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22 February 2020

page(s)

1089-1097

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https://scigraph.springernature.com/pub.10.1007/s00439-015-1590-1

22 February 2020

exact match

0 references

cites work

No mutation in genes of the WNT signaling pathway in patients with Zimmermann-Laband syndrome

1 reference

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The genetic basis of DOORS syndrome: an exome-sequencing study

21 January 2018

1 reference

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Clinical and genetic study of two patients with Zimmermann-Laband syndrome and literature review.

21 January 2018

1 reference

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Diagnostic exome sequencing in persons with severe intellectual disability

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1590-1

Temple-Baraitser syndrome: A rare and possibly unrecognized condition

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1590-1

DOOR syndrome: clinical report, literature review and discussion of natural history.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1590-1

Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1590-1

The enigmatic cytoplasmic regions of KCNH channels

21 January 2018

1 reference

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Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

21 January 2018

1 reference

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Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-015-1590-1

Severe mental retardation and absent nails of Hallux and Pollex

21 January 2018

1 reference

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De novo mutation in ATP6V1B2 impairs lysosome acidification and causes dominant deafness-onychodystrophy syndrome.

21 January 2018

1 reference

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High-resolution mapping of genotype-phenotype relationships in cri du chat syndrome using array comparative genomic hybridization

21 January 2018

1 reference

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Two cases of Temple-Baraitser syndrome: natural history and further delineation of the clinical and radiologic phenotypes

21 January 2018

1 reference

12 December 2020

Expanding the phenotype of gingival fibromatosis-mental retardation-hypertrichosis (Zimmermann-Laband) syndrome

1 reference

12 December 2020

Laband syndrome: a case report

1 reference

12 December 2020

HEREDITARY GINGIVAL FIBROMATOSIS. REPORT OF AN AFFECTED FAMILY WITH ASSOCIATED SPLENOMEGALY AND SKELETAL AND SOFT-TISSUE ABNORMALITIES

1 reference

12 December 2020

Absent nails, kinesogenic choreoathetosis, epilepsy and developmental delay--a new autosomal dominant disorder?

1 reference

12 December 2020

A second case of severe mental retardation and absent nails of hallux and pollex (Temple–Baraitser syndrome)

1 reference

12 December 2020

Report of a patient with Temple-Baraitser syndrome

1 reference

12 December 2020