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Borck, Guntram
170  results:
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1

Multi‐gene panel sequencing in highly consanguineous famili..:

Kakar, Naseebullah ; Rehman, Fazal ur ; Kaur, Ramandeep...
Clinical Genetics.  106 (2024)  1 - p. 47-55 , 2024
Link: https://doi.org/10.1111/..
 
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2

Elucidating the relationship between migraine risk and brai..:

Mitchell, Brittany L ; Diaz-Torres, Santiago ; Bivol, Svetlana...
Brain.  145 (2022)  9 - p. 3214-3224 , 2022
Link: https://doi.org/10.1093/..
 
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3

Déficience intellectuelle autosomique récessive : étude cli..:

Saadi, Abdelkrim ; Colleaux, Laurence ; Azzedine, Hamid...
Revue Neurologique.  178 (2022)  - p. S44-S45 , 2022
Link: https://doi.org/10.1016/..
 
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4

A recurrent, homozygous EMC10 frameshift variant is associa..:

Shao, Diane D. ; Straussberg, Rachel ; Ahmed, Hind...
Genetics in Medicine.  23 (2021)  6 - p. 1158-1162 , 2021
Link: https://doi.org/10.1038/..
 
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5

Quality of Life After Deep Brain Stimulation of Pediatric P..:

Koy, Anne ; Kühn, Andrea A. ; Huebl, Julius...
Movement Disorders.  37 (2021)  4 - p. 799-811 , 2021
Link: https://doi.org/10.1002/..
 
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6

Cross-trait analyses with migraine reveal widespread pleiot..:

Siewert, Katherine M ; Klarin, Derek ; Damrauer, Scott M...
International Journal of Epidemiology.  49 (2020)  3 - p. 1022-1031 , 2020
Link: https://doi.org/10.1093/..
 
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7

The murine ortholog of Kaufman oculocerebrofacial syndrome ..:

Ambrozkiewicz, Mateusz C. ; Borisova, Ekaterina ; Schwark, Manuela...
Molecular Psychiatry.  26 (2020)  6 - p. 1980-1995 , 2020
Link: https://doi.org/10.1038/..
 
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8

A genome-wide cross-phenotype meta-analysis of the associat..:

Guo, Yanjun ; Rist, Pamela M. ; Daghlas, Iyas...
Nature Communications.  11 (2020)  1 - p. , 2020
Link: https://doi.org/10.1038/..
 
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9

SQSTM1/p62 variants in 486 patients with familial ALS from ..:

Yilmaz, Rüstem ; Müller, Kathrin ; Brenner, David...
Neurobiology of Aging.  87 (2020)  - p. 139.e9-139.e15 , 2020
Link: https://doi.org/10.1016/..
 
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10

Variants in KIAA0825 underlie autosomal recessive postaxial..:

Ullah, Irfan ; Kakar, Naseebullah ; Schrauwen, Isabelle...
Human Genetics.  138 (2019)  6 - p. 593-600 , 2019
Link: https://doi.org/10.1007/..
 
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11

Unknown mutations and genotype/phenotype correlations of au..:

Lima Cunha, Dulce ; Alakloby, Omar Mohammed ; Gruber, Robert...
Molecular Genetics & Genomic Medicine.  7 (2019)  3 - p. , 2019
Link: https://doi.org/10.1002/..
 
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12

Next-generation sequencing of 32 genes associated with here..:

Renner, Sina ; Schüler, Helke ; Alawi, Malik...
Genetics in Medicine.  21 (2019)  8 - p. 1832-1841 , 2019
Link: https://doi.org/10.1038/..
 
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13

Reply: Adult-onset distal spinal muscular atrophy: a new ph..:

Brenner, David ; Rosenbohm, Angela ; Yilmaz, Rüstem...
Brain.  142 (2019)  12 - p. e67-e67 , 2019
Link: https://doi.org/10.1093/..
 
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14

Clinical and genetic spectrum of AMPD2-related pontocerebel..:

Kortüm, Fanny ; Jamra, Rami Abou ; Alawi, Malik...
European Journal of Human Genetics.  26 (2018)  5 - p. 695-708 , 2018
Link: https://doi.org/10.1038/..
 
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15

Dominant Noonan syndrome-causing LZTR1 mutations specifical..:

Motta, Marialetizia ; Fidan, Miray ; Bellacchio, Emanuele...
Human Molecular Genetics.  28 (2018)  6 - p. 1007-1022 , 2018
Link: https://doi.org/10.1093/..
 
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