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12 3 weiter »

1
Identification of 22 susceptibility loci associated with testicular germ cell tumors

von Pluta, J ; Pyle, LC ; Nead, KT ; et al.
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2
Meta-analysis of five genome-wide association studies identifies multiple new loci associated with testicular germ cell tumor.

von Wang, Z ; McGlynn, KA ; Rajpert-De Meyts, E ; et al.

Schlagworte: Testicular Cancer Consortium; Chromosomes; Human; Humans; Neoplasms; Germ Cell and Embryonal; Testicular Neoplasms; Genetic Predisposition to Disease; Genetic Markers; Risk; Chromosome Mapping; Computational Biology; Genotype; Haplotypes; Polymorphism; Single Nucleotide; Computer Simulation; Adult; Family Health; Male; Genome-Wide Association Study; Young Adult
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3
Meta-analysis of five genome-wide association studies identifies multiple new loci associated with testicular germ cell tumor

von Wang, Z ; McGlynn, KA ; Rajpert-De Meyts, E ; et al.
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4
Identification of 22 susceptibility loci associated with testicular germ cell tumors

von Pluta J ; Pyle LC ; Nead KT ; et al.

Nature Communications
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5
The Coronavirus Disease 2019 pandemic is associated with a substantial rise in frequency and severity of presentation of youth-onset type 2 diabetes

von SN, Magge ; RM, Wolf ; L, Pyle ; et al.

Yearbook of Paediatric Endocrinology ; ISSN 1662-4009
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6
Loss-of-function variants in PPP1R12A: From isolated sex reversal to holoprosencephaly spectrum and urogenital malformations

von JJ, Hughes ; E, Alkhunaizi ; P, Kruszka ; et al.

Yearbook of Paediatric Endocrinology ; ISSN 1662-4009
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7
Publisher Correction: Whole-genome sequencing of a sporadic primary immunodeficiency cohort (Nature, (2020), 583, 7814, (90-95), 10.1038/s41586-020-2265-1)

von Lango Allen H ; Rae W ; Greene D ; et al.

Nature, 2020
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8
Whole-genome sequencing of patients with rare diseases in a national health system

von Turro E ; Astle WJ ; Graf S ; et al.

Nature, 2020
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9
Age-associated mitochondrial DNA mutations cause metabolic remodelling that contributes to accelerated intestinal tumorigenesis.

von Smith, AL ; Whitehall, JC ; Bradshaw, C ; et al.
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10
Age-associated mitochondrial DNA mutations cause metabolic remodeling that contributes to accelerated intestinal tumorigenesis

von Smith ALM ; Whitehall JC ; Bradshaw C ; et al.

Nature Cancer
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11
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14
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15
Shared multicellular injury programs of acute and chronic kidney disease enable mechanistic patient stratification.

von Fallegger R ; Gomez-Ochoa SA ; Boys C ; et al.

MedRxiv : the preprint server for health sciences [medRxiv] 2026 Mar 06. Date of Electronic Publication: 2026 Mar 06.
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16
Genetic analysis of two bladder exstrophy populations of South Asian and North American origin.

von Weaver JK ; Weiss DA ; Thompson A ; et al.

Journal of pediatric urology [J Pediatr Urol] 2025 Dec; Vol. 21 (6), pp. 1433-1441. Date of Electronic Publication: 2025 Apr 26.
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17
Fetal Presentation of MYRF-Related Cardiac Urogenital Syndrome: An Emerging and Challenging Prenatal Diagnosis.

von Favier M ; Brischoux-Boucher E ; Pyle LC ; et al.

Prenatal diagnosis [Prenat Diagn] 2024 Dec; Vol. 44 (13), pp. 1647-1658. Date of Electronic Publication: 2024 Nov 14.
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18
Characterization of a Biochemical Mouse Model of Primary Aldosteronism for Thermal Therapies.

von Timmerman SA ; Mullen N ; Taylor AE ; et al.

BioRxiv : the preprint server for biology [bioRxiv] 2024 May 10. Date of Electronic Publication: 2024 May 10.
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19
Germline Exome Sequencing for Men with Testicular Germ Cell Tumor Reveals Coding Defects in Chromosomal Segregation and Protein-targeting Genes.

von Pyle LC ; Kim J ; Bradfield J ; et al.

European urology [Eur Urol] 2024 Apr; Vol. 85 (4), pp. 337-345. Date of Electronic Publication: 2023 May 26.
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20
Expanding the reproductive organ phenotype of CHD7-spectrum disorder.

von Nomakuchi TT ; Danowitz M ; Stewart B ; et al.

American journal of medical genetics. Part A [Am J Med Genet A] 2023 May; Vol. 191 (5), pp. 1418-1424. Date of Electronic Publication: 2023 Feb 16.
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21
Differences in gonadal tissue cryopreservation practices for differences of sex development across regions in the United States.

von Siebert AL ; Gomez-Lobo V ; Johnson EK ; et al.

Frontiers in endocrinology [Front Endocrinol (Lausanne)] 2023 Jan 17; Vol. 13, pp. 990359. Date of Electronic Publication: 2023 Jan 17 (Print Publication: 2022).
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22
The Coronavirus Disease 2019 Pandemic is Associated with a Substantial Rise in Frequency and Severity of Presentation of Youth-Onset Type 2 Diabetes.

von Magge SN ; Wolf RM ; Pyle L ; et al.

The Journal of pediatrics [J Pediatr] 2022 Dec; Vol. 251, pp. 51-59.e2. Date of Electronic Publication: 2022 Aug 17.
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23
Clinical Effectiveness of Telemedicine-Based Pediatric Genetics Care.

von Szigety KM ; Crowley TB ; Gaiser KB ; et al.

Pediatrics [Pediatrics] 2022 Jul 01; Vol. 150 (1).
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24
50 Years Ago in TheJournalofPediatrics: From Chromosomes to Clinical Care: Klinefelter Syndrome.

von Pyle LC ; Leonard JMM ; Krantz ID

The Journal of pediatrics [J Pediatr] 2022 Apr; Vol. 243, pp. 90.
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25
The broader phenotypic spectrum of congenital caudal abnormalities associated with mutations in the caudal type homeobox 2 gene.

von Stevens SJC ; Stumpel CTRM ; Diderich KEM ; et al.

Clinical genetics [Clin Genet] 2022 Feb; Vol. 101 (2), pp. 183-189. Date of Electronic Publication: 2021 Oct 28.
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12 3 weiter »

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