E-LIB Suche - Ergebnisse für: Beaman, Glenda M.

1

Neurogenic Defects Occur in LRIG2-Associated Urinary Bladde..:

Grenier, Celine ; Lopes, Filipa M. ; Cueto-González, Anna M....
Kidney International Reports. 8 (2023) 7 - p. 1417-1429 , 2023

Link: https://doi.org/10.1016/..

2

Narrowing the chromosome 22q11.2 locus duplicated in bladde..:

Beaman, Glenda M. ; Woolf, Adrian S. ; Lopes, Filipa M....
Journal of Pediatric Urology. 18 (2022) 3 - p. 362.e1-362.e8 , 2022

Link: https://doi.org/10.1016/..

3

Expanding the HPSE2 Genotypic Spectrum in Urofacial Syndrom..:

Beaman, Glenda M. ; Lopes, Filipa M. ; Hofmann, Aybike...
Frontiers in Genetics. 13 (2022) - p. , 2022

Link: https://doi.org/10.3389/..

4

Germline intergenic duplications at Xq26.1 underlie Bazex–D..:

Liu, Yanshan ; Banka, Siddharth ; Huang, Yingzhi...
British Journal of Dermatology. 187 (2022) 6 - p. 948-961 , 2022

Link: https://doi.org/10.1111/..

5

Diverse ancestry whole-genome sequencing association study ..:

Chan, Melanie MY ; Sadeghi-Alavijeh, Omid ; Lopes, Filipa M...
eLife. 11 (2022) - p. , 2022

Link: https://doi.org/10.7554/..

6

Biallelic loss of function variants in STAG3 result in prim..:

Demain, Leigh A.M. ; Boetje, Eline ; Edgerley, Jonathan J....
Reproductive BioMedicine Online. 43 (2021) 5 - p. 899-902 , 2021

Link: https://doi.org/10.1016/..

7

The Genomic Architecture of Bladder Exstrophy Epispadias Co..:

Beaman, Glenda M. ; Cervellione, Raimondo M. ; Keene, David..
Genes. 12 (2021) 8 - p. 1149 , 2021

Link: https://doi.org/10.3390/..

8

Bi-allelic variants in the mitochondrial RNase P subunit PR..:

Hochberg, Irit ; Demain, Leigh A.M. ; Richer, Julie...
The American Journal of Human Genetics. 108 (2021) 11 - p. 2195-2204 , 2021

Link: https://doi.org/10.1016/..

9

Expanding the genotypic spectrum of TXNL4A variants in Burn..:

Wood, Katherine A. ; Ellingford, Jamie M. ; Thomas, Huw B....
Clinical Genetics. 101 (2021) 2 - p. 255-259 , 2021

Link: https://doi.org/10.1111/..

10

SLC20A1 Is Involved in Urinary Tract and Urorectal Developm..:

Rieke, Johanna Magdalena ; Zhang, Rong ; Braun, Doreen...
Frontiers in Cell and Developmental Biology. 8 (2020) - p. , 2020

Link: https://doi.org/10.3389/..

11

Ligase IV syndrome can present with microcephaly and radial..:

Madhu, Rajesh ; Beaman, Glenda M. ; Chandler, Kate E....
European Journal of Medical Genetics. 63 (2020) 9 - p. 103974 , 2020

Link: https://doi.org/10.1016/..

12

Early B-cell Factor 3–Related Genetic Disease Can Mimic Uro..:

Harkness, J. Robert ; Beaman, Glenda M. ; Teik, Keng W....
Kidney International Reports. 5 (2020) 10 - p. 1823-1827 , 2020

Link: https://doi.org/10.1016/..

13

Loss-of-function variants in myocardin cause congenital meg..:

Houweling, Arjan C. ; Beaman, Glenda M. ; Postma, Alex V....
Journal of Clinical Investigation. 129 (2019) 12 - p. 5374-5380 , 2019

Link: https://doi.org/10.1172/..

14

A homozygous missense variant in CHRM3 associated with fami..:

Beaman, Glenda M. ; Galatà, Gabriella ; Teik, Keng W....
Clinical Genetics. 96 (2019) 6 - p. 515-520 , 2019

Link: https://doi.org/10.1111/..

15

Rare Variants in BNC2 Are Implicated in Autosomal-Dominant ..:

Kolvenbach, Caroline M. ; Dworschak, Gabriel C. ; Frese, Sandra...
The American Journal of Human Genetics. 104 (2019) 5 - p. 994-1006 , 2019

Link: https://doi.org/10.1016/..