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Schierbaum, Luca
42  results:
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1

Expanding the spectrum of novel candidate genes using trio ..:

Schneider, Ronen ; Shril, Shirlee ; Buerger, Florian...
Genes & Diseases.  , 2024
Link: https://doi.org/10.1016/..
 
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2

Bi-allelic variants in RINT1 present as early-onset pure he..:

Quiroz, Vicente ; Planas-Serra, Laura ; Sveden, Abigail...
Journal of Clinical Investigation.  , 2024
Link: https://doi.org/10.1172/..
 
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3

Recessive CHRM5 variant as a potential cause of neurogenic ..:

Schneider, Sophia ; Schierbaum, Luca ; Burger, Wessel A. C....
American Journal of Medical Genetics Part A.  191 (2023)  8 - p. 2083-2091 , 2023
Link: https://doi.org/10.1002/..
 
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4

A homozygous truncating ETV4 variant in a Nigerian family w..:

Kolvenbach, Caroline M. ; Zheng, Bixia ; Merz, Lea M....
American Journal of Medical Genetics Part A.  191 (2023)  5 - p. 1355-1359 , 2023
Link: https://doi.org/10.1002/..
 
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5

Whole exome sequencing identifies potential candidate genes..:

Wang, Chunyan ; Seltzsam, Steve ; Zheng, Bixia...
American Journal of Medical Genetics Part A.  188 (2022)  5 - p. 1355-1367 , 2022
Link: https://doi.org/10.1002/..
 
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6

Reverse phenotyping facilitates disease allele calling in e..:

Seltzsam, Steve ; Wang, Chunyan ; Zheng, Bixia...
Genetics in Medicine.  24 (2022)  2 - p. 307-318 , 2022
Link: https://doi.org/10.1016/..
 
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7

Genome-wide association study in patients with posterior ur..:

van der Zanden, Loes F. M. ; Maj, Carlo ; Borisov, Oleg...
Frontiers in Pediatrics.  10 (2022)  - p. , 2022
Link: https://doi.org/10.3389/..
 
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8

Genome-wide identification of disease-causing copy number v..:

Fabian, Julia ; Dworschak, Gabriel C. ; Waffenschmidt, Lea...
European Journal of Human Genetics.  31 (2022)  1 - p. 105-111 , 2022
Link: https://doi.org/10.1038/..
 
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9

Copy Number Variation Analysis Facilitates Identification o..:

Wu, Chen-Han Wilfred ; Lim, Tze Y. ; Wang, Chunyan...
European Urology Open Science.  44 (2022)  - p. 106-112 , 2022
Link: https://doi.org/10.1016/..
 
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10

X-linked variations inSHROOM4are implicated in congenital a..:

Kolvenbach, Caroline M ; Felger, Tim ; Schierbaum, Luca...
Journal of Medical Genetics.  60 (2022)  6 - p. 587-596 , 2022
Link: https://doi.org/10.1136/..
 
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11

Exome survey of individuals affected by VATER/VACTERL with ..:

Kolvenbach, Caroline M. ; van der Ven, Amelie T. ; Kause, Franziska...
American Journal of Medical Genetics Part A.  185 (2021)  12 - p. 3784-3792 , 2021
Link: https://doi.org/10.1002/..
 
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12

A truncating NRIP1 variant in an Arabic family with congeni..:

Zheng, Bixia ; Wang, Chunyan ; Seltzsam, Steve...
American Journal of Medical Genetics Part A.  188 (2021)  1 - p. 310-313 , 2021
Link: https://doi.org/10.1002/..
 
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13

Whole-exome sequencing identifiesFOXL2,FOXA2andFOXA3as cand..:

Zheng, Bixia ; Seltzsam, Steve ; Wang, Chunyan...
Nephrology Dialysis Transplantation.  37 (2021)  10 - p. 1833-1843 , 2021
Link: https://doi.org/10.1093/..
 
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14

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/..
 
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15

Exome sequencing identifies a likely causative variant in 5..:

Deutsch, Konstantin ; Klämbt, Verena ; Kitzler, Thomas M....
Genes & Diseases.  11 (2024)  5 - p. 101111 , 2024
Link: https://doi.org/10.1016/..
 
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