Thank you for visiting nature.com. You are using a browser version with limited support for CSS. To obtain the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in Internet Explorer). In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript.

View all journals
Search
Log in

nature
search

Search

Advanced search

Filter By:

Journal Check one or more journals to show results from those journals only.

Pediatric Research (5)
Genetics in Medicine (4)
European Journal of Human Genetics (3)
Oncogene (2)
Molecular Psychiatry (1)

Choose more journals

Article type Check one or more article types to show results from those article types only.

Research (20)

Subject Check one or more subjects to show results from those subjects only.

Diseases
Environmental studies
Genetics
Health care
Language and linguistics
Medical research
Neurology
Philosophy
Politics and international relations
Science, technology and society

Date Choose a date option to show results from those dates only.

Today
Last 7 days
Last 30 days
Last 12 months
Last 2 years
Last 5 years

Custom date range

Clear all filters

Sort by:

Relevance

Date published (new to old)

Date published (old to new)

Showing 1–20 of 20 results

Advanced filters: Author: R Beetz Clear advanced filters

African ancestry neurodegeneration risk variant disrupts an intronic branchpoint in GBA1

Here, the authors describe a noncoding genetic variant in GBA1 specific to people of African ancestry that increases the risk of neurodegenerative diseases by interfering with the splicing of mRNA, resulting in lowered protein levels and activity.

Pilar Álvarez Jerez
Peter Wild Crea
Cornelis Blauwendraat
ResearchOpen Access12 Dec 2024
Nature Structural & Molecular Biology

Volume: 31, P: 1955-1963
Probable Non-synchroneity of Late Precambrian Glaciations

A. R. CRAWFORD
B. DAILY
Research12 Mar 1971
Nature

Volume: 230, P: 111-112
85 ROLE OF NK CELLS IN REJECTION OF T-DEPLETED BM GRAFTS

O Schofer
H J Büttner
R Beetz
Research01 Aug 1988
Pediatric Research

Volume: 24, P: 275
UROEPITHELIAL DEFENSE IN CHILDREN WITH URINARY TRACT INFECTIONS (UTI)

W Mannhardt
K H Ludwig
H Schulte-Wissermann
Research01 Oct 1985
Pediatric Research

Volume: 19, P: 1084
Alu-specific microhomology-mediated deletion of the final exon of SPAST in three unrelated subjects with hereditary spastic paraplegia

Philip M Boone
Pengfei Liu
James R Lupski
Research30 Mar 2011
Genetics in Medicine

Volume: 13, P: 582-592
73 BONE MARROW TRANSPLANTATION FOR SELECTIVE T-HELPER CELL DEFICIENCY (T+, B+, NK+ SCID)

O Schofer
F Zepp
R Beetz
Research01 Aug 1988
Pediatric Research

Volume: 24, P: 273
INCREASED PERIVENTRICULAR ECHCDENSITIES IN VERY PRETERM INFANTS AND PREDICTION OF EARLY NEURCDEVELOPMENTAL OUTCOME

A L Stewart
P L Hope
E O R Reynolds
Research01 Oct 1985
Pediatric Research

Volume: 19, P: 1084
Thioredoxin reductase regulates AP-1 activity as well as thioredoxin nuclear localization via active cysteines in response to ionizing radiation

Shervin Karimpour
Junyang Lou
David Gius
Research12 Sept 2002
Oncogene

Volume: 21, P: 6317-6327
Expression of ErbB2 enhances radiation-induced NF-κB activation

Guozheng Guo
Tieli Wang
Jian Jian Li
Research15 Jan 2004
Oncogene

Volume: 23, P: 535-545
Materializing discourse analysis with James, Schmitt and Latour

Pepijn van Eeden
ResearchOpen Access15 Jun 2017
Palgrave Communications

Volume: 3, P: 1-19
INVESTIGATI0N OF THE UROEPITHELIAL DEFENSE MECHANISM IN HEALTH FEMALE AND CHILDREN WITH RECURRENT URINARY TRACT INFECTIONS (UTI)

W Mannhardt
M Putzer
N Schulte-Wissernann
Research01 Nov 1989
Pediatric Research

Volume: 26, P: 505
The LRRK2 p.L1795F variant causes Parkinson’s disease in the European population

Lara M. Lange
Kristin Levine
Masharip Atadzhanov
ResearchOpen Access25 Mar 2025
npj Parkinson's Disease

Volume: 11, P: 1-10
Mild dehydration: a risk factor of urinary tract infection?

R Beetz
Research18 Dec 2003
European Journal of Clinical Nutrition

Volume: 57, P: S52-S58
Development of an evidence-based algorithm that optimizes sensitivity and specificity in ES-based diagnostics of a clinically heterogeneous patient population

Peter Bauer
Krishna Kumar Kandaswamy
Arndt Rolfs
ResearchOpen Access13 Aug 2018
Genetics in Medicine

Volume: 21, P: 53-61
A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features

Diane D. Shao
Rachel Straussberg
Christopher A. Walsh
ResearchOpen Access02 Feb 2021
Genetics in Medicine

Volume: 23, P: 1158-1162
Identification of causative variants in TXNL4A in Burn-McKeown syndrome and isolated choanal atresia

Jacqueline A C Goos
Sigrid M A Swagemakers
Jane A Hurst
ResearchOpen Access26 Jul 2017
European Journal of Human Genetics

Volume: 25, P: 1126-1133
Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition

Elizabeth E. Palmer
Michael Pusch
Vera M. Kalscheuer
ResearchOpen Access16 Nov 2022
Molecular Psychiatry

Volume: 28, P: 668-697
Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies

Maria Iqbal
Reza Maroofian
Gökhan Yigit
ResearchOpen Access09 Jul 2021
Genetics in Medicine

Volume: 23, P: 2138-2149
Pathogenic variants in PIDD1 lead to an autosomal recessive neurodevelopmental disorder with pachygyria and psychiatric features

Maha S. Zaki
Andrea Accogli
Reza Maroofian
ResearchOpen Access24 Jun 2021
European Journal of Human Genetics

Volume: 29, P: 1226-1234
A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome

Shereen G. Ghosh
Marcello Scala
Joseph G. Gleeson
Research08 Sept 2020
European Journal of Human Genetics

Volume: 29, P: 271-279

Search

Search articles by subject, keyword or author

Show results from

Advanced search

Quick links

Explore articles by subject
Find a job
Guide to authors
Editorial policies

Nature.com

nature.com sitemap

About Nature Portfolio

About us
Press releases
Press office
Contact us

Discover content

Journals A-Z
Articles by subject
protocols.io
Nature Index

Publishing policies

Nature portfolio policies
Open access

Author & Researcher services

Reprints & permissions
Research data
Language editing
Scientific editing
Nature Masterclasses
Research Solutions

Libraries & institutions

Librarian service & tools
Librarian portal
Open research
Recommend to library

Advertising & partnerships

Advertising
Partnerships & Services
Media kits
Branded content

Professional development

Nature Awards
Nature Careers
Nature Conferences

Regional websites

Nature Africa
Nature China
Nature India
Nature Japan
Nature Middle East

Privacy Policy
Use of cookies
Legal notice
Accessibility statement
Terms & Conditions
Your US state privacy rights

Search

African ancestry neurodegeneration risk variant disrupts an intronic branchpoint in GBA1

Probable Non-synchroneity of Late Precambrian Glaciations

85 ROLE OF NK CELLS IN REJECTION OF T-DEPLETED BM GRAFTS

UROEPITHELIAL DEFENSE IN CHILDREN WITH URINARY TRACT INFECTIONS (UTI)

Alu-specific microhomology-mediated deletion of the final exon of SPAST in three unrelated subjects with hereditary spastic paraplegia

73 BONE MARROW TRANSPLANTATION FOR SELECTIVE T-HELPER CELL DEFICIENCY (T+, B+, NK+ SCID)

INCREASED PERIVENTRICULAR ECHCDENSITIES IN VERY PRETERM INFANTS AND PREDICTION OF EARLY NEURCDEVELOPMENTAL OUTCOME

Thioredoxin reductase regulates AP-1 activity as well as thioredoxin nuclear localization via active cysteines in response to ionizing radiation

Expression of ErbB2 enhances radiation-induced NF-κB activation

Materializing discourse analysis with James, Schmitt and Latour

INVESTIGATI0N OF THE UROEPITHELIAL DEFENSE MECHANISM IN HEALTH FEMALE AND CHILDREN WITH RECURRENT URINARY TRACT INFECTIONS (UTI)

The LRRK2 p.L1795F variant causes Parkinson’s disease in the European population

Mild dehydration: a risk factor of urinary tract infection?

Development of an evidence-based algorithm that optimizes sensitivity and specificity in ES-based diagnostics of a clinically heterogeneous patient population

A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features

Identification of causative variants in TXNL4A in Burn-McKeown syndrome and isolated choanal atresia

Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition

Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies

Pathogenic variants in PIDD1 lead to an autosomal recessive neurodevelopmental disorder with pachygyria and psychiatric features

A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome

Search

Quick links