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Begtrup, Amber
171  results:
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1

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder:

Martin, Carol-Anne ; Sarlós, Kata ; Logan, Clare V....
The American Journal of Human Genetics.  111 (2024)  5 - p. 996 , 2024
Link: https://doi.org/10.1016/..
 
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177 ClinGen Framework for PIK3CD Variant Classification: Us..:

Nieto-Patlán, Alejandro ; Worley, Lindsay ; Hankey, William...
Clinical Immunology.  262 (2024)  - p. 110119 , 2024
Link: https://doi.org/10.1016/..
 
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3

Börjeson–Forssman–Lehmann syndrome: delineating the clinica..:

Jain, Vani ; Foo, Seow Hoong ; Chooi, Stephen...
European Journal of Human Genetics.  31 (2023)  12 - p. 1421-1429 , 2023
Link: https://doi.org/10.1038/..
 
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4

CTLA4 variant curation using adapted ACMG/AMP guidelines:

Hankey, William ; Worley, Lindsay ; Hilliard, Kyle...
Clinical Immunology.  250 (2023)  - p. 109425 , 2023
Link: https://doi.org/10.1016/..
 
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5

Clinical, neuroradiological, and molecular characterization..:

Accogli, Andrea ; Lin, Sheng-Jia ; Severino, Mariasavina...
Genetics in Medicine.  25 (2023)  11 - p. 100938 , 2023
Link: https://doi.org/10.1016/..
 
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6

POLR1A variants underlie phenotypic heterogeneity in cranio..:

Smallwood, Kelly ; Watt, Kristin E.N. ; Ide, Satoru...
The American Journal of Human Genetics.  110 (2023)  5 - p. 809-825 , 2023
Link: https://doi.org/10.1016/..
 
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7

Loss-of-function variants in MYCBP2 cause neurobehavioural ..:

AlAbdi, Lama ; Desbois, Muriel ; Rusnac, Domniţa-Valeria...
Brain.  146 (2022)  4 - p. 1373-1387 , 2022
Link: https://doi.org/10.1093/..
 
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8

Genetic and phenotypic spectrum in the NONO‐associated synd..:

Roessler, Franziska ; Beck, Anita E. ; Susie, Ball...
American Journal of Medical Genetics Part A.  191 (2022)  2 - p. 469-478 , 2022
Link: https://doi.org/10.1002/..
 
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9

Heterozygous variants in CTR9, which encodes a major compon..:

Meuwissen, Marije ; Verstraeten, Aline ; Ranza, Emmanuelle...
Genetics in Medicine.  24 (2022)  7 - p. 1583-1591 , 2022
Link: https://doi.org/10.1016/..
 
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10

Variant-specific changes in RAC3 function disrupt corticoge..:

Scala, Marcello ; Nishikawa, Masashi ; Ito, Hidenori...
Brain.  145 (2022)  9 - p. 3308-3327 , 2022
Link: https://doi.org/10.1093/..
 
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11

Heterozygous variants inPRPF8are associated with neurodevel..:

O'Grady, Lauren ; Schrier Vergano, Samantha A. ; Hoffman, Trevor L....
American Journal of Medical Genetics Part A.  188 (2022)  9 - p. 2750-2759 , 2022
Link: https://doi.org/10.1002/..
 
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12

Gain-of-function mutations in KCNK3 cause a developmental d..:

Sörmann, Janina ; Schewe, Marcus ; Proks, Peter...
Nature Genetics.  54 (2022)  10 - p. 1534-1543 , 2022
Link: https://doi.org/10.1038/..
 
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13

Defining the genotypic and phenotypic spectrum of X-linked ..:

Brunet, Theresa ; McWalter, Kirsty ; Mayerhanser, Katharina...
Genetics in Medicine.  23 (2021)  2 - p. 384-395 , 2021
Link: https://doi.org/10.1038/..
 
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14

An autosomal dominant neurological disorder caused by de no..:

Ferdinandusse, Sacha ; McWalter, Kirsty ; te Brinke, Heleen...
Genetics in Medicine.  23 (2021)  4 - p. 740-750 , 2021
Link: https://doi.org/10.1038/..
 
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15

Deep-Phenotyping the Less Severe Spectrum of PIGT Deficienc..:

Bayat, Allan ; Pendziwiat, Manuela ; Obersztyn, Ewa...
Frontiers in Genetics.  12 (2021)  - p. , 2021
Link: https://doi.org/10.3389/..
 
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