(Q24300448)

HYLS1, centriolar and ciliogenesis associated

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

hydrolethalus syndrome

1 reference

inferred from title

author

Leena Peltonen-Palotie

11

Leena Peltonen

Leena

Peltonen

1 reference

26 November 2023

3

Outi Kopra

Outi

Kopra

1 reference

26 November 2023

Lisa Mee

1

Lisa

Mee

1 reference

26 November 2023

Heli Honkala

2

Heli

Honkala

1 reference

26 November 2023

Jouni Vesa

4

Jouni

Vesa

1 reference

26 November 2023

Saara Finnilä

5

Saara

Finnilä

1 reference

26 November 2023

Ilona Visapää

6

Ilona

Visapää

1 reference

26 November 2023

Tzu-Kang Sang

7

Tzu-Kang

Sang

1 reference

26 November 2023

George R Jackson

8

George R

Jackson

1 reference

26 November 2023

Riitta Salonen

9

Riitta

Salonen

1 reference

26 November 2023

Marjo Kestilä

10

Marjo

Hydrolethalus syndrome: report of an apparent mild case, literature review, and differential diagnosis

Kestilä

1 reference

26 November 2023

language of work or name

English

0 references

publication date

1 June 2005

0 references

published in

Human Molecular Genetics

0 references

volume

14

0 references

issue

11

0 references

page(s)

1475-88

0 references

cites work

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI157

7 January 2021

Hydrolethalus syndrome, in contrast to Smith-Lemli-Opitz syndrome, is not due to a defect in post-squalene cholesterol biosynthesis: a case report

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI157

7 January 2021

Sonographic detection of hydrolethalus syndrome

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI157

7 January 2021

First-trimester diagnosis of hydrolethalus syndrome in a Chinese family

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI157

7 January 2021

Hydrolethalus syndrome in a non-Finnish family: confirmation of the entity and early prenatal diagnosis

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI157

7 January 2021

In situ hybridization with digoxigenin-labeled probes: sensitive and reliable detection method applied to myelinating rat brain

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI157

7 January 2021

Induction in the developing compound eye of Drosophila: multiple mechanisms restrict R7 induction to a single retinal precursor cell

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI157

7 January 2021

Cerebral hemidecortication alters expression of transforming growth factor alpha mRNA in the neostriatum of developing rats.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI157

7 January 2021

Protein and RNA export from the nucleus

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI157

7 January 2021

Modelling neurodegenerative diseases in Drosophila: a fruitful approach?

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI157

7 January 2021

First-trimester diagnosis of hydrolethalus syndrome

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI157

7 January 2021

Translational regulation of angiotensin type 1a receptor expression and signaling by upstream AUGs in the 5' leader sequence

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI157

7 January 2021

Assignment of the locus for hydrolethalus syndrome to a highly restricted region on 11q23-25.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI157

7 January 2021

GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI157

7 January 2021

Molecular genetics of the Finnish disease heritage.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI157

7 January 2021

The hydrolethalus syndrome: delineation of a "new", lethal malformation syndrome based on 28 patients.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI157

7 January 2021

Hydrolethalus syndrome

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI157

7 January 2021

Genomic structure and 5'-flanking sequences of rat N-acetylglucosaminyltransferase I gene and regulatory role of its transcriptional diversity.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI157

7 January 2021