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Buchert, Rebecca
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1

ZSCAN10 deficiency causes a neurodevelopmental disorder wit..:

Laugwitz, Lucia ; Cheng, Fubo ; Collins, Stephan C...
Brain.  147 (2024)  7 - p. 2471-2482 , 2024
Link: https://doi.org/10.1093/..
 
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2

Clinical and genetic investigation of 14 families with vari..:

Khan, Fati Ullah ; Khan, Hammal ; Ullah, Kifayat...
Clinical Genetics.  , 2024
Link: https://doi.org/10.1111/..
 
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3

A PAK1 Mutational Hotspot Within the Regulatory CRIPaK Doma..:

Scorrano, Giovanna ; D'Onofrio, Gianluca ; Accogli, Andrea...
Pediatric Neurology.  149 (2023)  - p. 84-92 , 2023
Link: https://doi.org/10.1016/..
 
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4

Genome sequencing identifies complex structural MLH1 varian..:

Witt, Dennis ; Faust, Ulrike ; Strobl‐Wildemann, Gertrud...
Molecular Genetics & Genomic Medicine.  11 (2023)  6 - p. , 2023
Link: https://doi.org/10.1002/..
 
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5

Clinical trio genome sequencing facilitates the interpretat..:

Schroeder, Christopher ; Faust, Ulrike ; Krauße, Luisa...
European Journal of Human Genetics.  31 (2023)  10 - p. 1139-1146 , 2023
Link: https://doi.org/10.1038/..
 
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6

Variants in EFCAB7 underlie nonsyndromic postaxial polydact..:

Bilal, Muhammad ; Khan, Hammal ; Khan, Muhammad Javed...
European Journal of Human Genetics.  31 (2023)  11 - p. 1270-1274 , 2023
Link: https://doi.org/10.1038/..
 
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7

Heterozygous frameshift variants in HNRNPA2B1 cause early-o..:

Kim, Hong Joo ; Mohassel, Payam ; Donkervoort, Sandra...
Nature Communications.  13 (2022)  1 - p. , 2022
Link: https://doi.org/10.1038/..
 
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8

CCDC82 frameshift mutation associated with intellectual dis..:

Bauer, Gregor ; Buchert, Rebecca ; Haack, Tobias B...
Clinical Genetics.  102 (2022)  1 - p. 80-81 , 2022
Link: https://doi.org/10.1111/..
 
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9

Genome Sequencing and Transcriptome Profiling in Twins Disc..:

Buchert, Rebecca ; Schenk, Elisabeth ; Hentrich, Thomas...
Journal of Clinical Medicine.  11 (2022)  19 - p. 5598 , 2022
Link: https://doi.org/10.3390/..
 
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10

Correction to: First-line exome sequencing in Palestinian a..:

Hengel, Holger ; Buchert, Rebecca ; Sturm, Marc...
European Journal of Human Genetics.  30 (2021)  2 - p. 248-248 , 2021
Link: https://doi.org/10.1038/..
 
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11

Bi-allelic loss-of-function variants inKIF21Acause severe f..:

Falb, Ruth J ; Müller, Amelie J ; Klein, Wolfram...
Journal of Medical Genetics.  60 (2021)  1 - p. 48-56 , 2021
Link: https://doi.org/10.1136/..
 
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12

Expanding the phenotypic spectrum of FINCA (fibrosis, neuro..:

Rapp, Christina K. ; Van Dijck, Ine ; Laugwitz, Lucia...
Clinical Genetics.  100 (2021)  4 - p. 453-461 , 2021
Link: https://doi.org/10.1111/..
 
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13

Genetic basis of neurodevelopmental disorders in 103 Jordan..:

Froukh, Tawfiq ; Nafie, Omar ; Al Hait, Sana' A. S....
Clinical Genetics.  97 (2020)  4 - p. 621-627 , 2020
Link: https://doi.org/10.1111/..
 
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14

Unraveling the genetic cause of hereditary ophthalmic disor..:

Mayer, Anja K. ; Balousha, Ghassan ; Sharkia, Rajech...
European Journal of Human Genetics.  28 (2020)  6 - p. 742-753 , 2020
Link: https://doi.org/10.1038/..
 
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15

First-line exome sequencing in Palestinian and Israeli Arab..:

Hengel, Holger ; Buchert, Rebecca ; Sturm, Marc...
European Journal of Human Genetics.  28 (2020)  8 - p. 1034-1043 , 2020
Link: https://doi.org/10.1038/..
 
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