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Kuechler, Alma
222  results:
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1

Distinct neonatal hyperammonemia and liver synthesis dysfun..:

Kirchberg, Ina ; Lainka, Elke ; Gangfuß, Andrea...
Frontiers in Pediatrics.  12 (2024)  - p. , 2024
Link: https://doi.org/10.3389/..
 
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2

Pathogenic PHIP Variants are Variably Associated With CAKUT:

de Fallois, Jonathan ; Sieckmann, Tobias ; Schönauer, Ria...
Kidney International Reports.  , 2024
Link: https://doi.org/10.1016/..
 
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3

Novel Variants of SOX4 in Patients with Intellectual Disabi..:

Grosse, Martin ; Kuechler, Alma ; Dabir, Tabib...
International Journal of Molecular Sciences.  24 (2023)  4 - p. 3519 , 2023
Link: https://doi.org/10.3390/..
 
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4

Bi-allelic variants of FILIP1 cause congenital myopathy, dy..:

Roos, Andreas ; van der Ven, Peter F M ; Alrohaif, Hadil...
Brain.  146 (2023)  10 - p. 4200-4216 , 2023
Link: https://doi.org/10.1093/..
 
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5

Genotype-phenotype correlations in RHOBTB2-associated neuro..:

Langhammer, Franziska ; Maroofian, Reza ; Badar, Rueda...
Genetics in Medicine.  25 (2023)  8 - p. 100885 , 2023
Link: https://doi.org/10.1016/..
 
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6

Disruption of MeCP2–TCF20 complex underlies distinct neurod..:

Zhou, Jian ; Hamdan, Hamdan ; Yalamanchili, Hari Krishna...
Proceedings of the National Academy of Sciences.  119 (2022)  4 - p. , 2022
Link: https://doi.org/10.1073/..
 
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7

Expanding the molecular spectrum of pathogenicSHOC2variants..:

Motta, Marialetizia ; Solman, Maja ; Bonnard, Adeline A...
Human Molecular Genetics.  31 (2022)  16 - p. 2766-2778 , 2022
Link: https://doi.org/10.1093/..
 
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8

The different clinical facets of SYN1-related neurodevelopm..:

Parenti, Ilaria ; Leitão, Elsa ; Kuechler, Alma...
Frontiers in Cell and Developmental Biology.  10 (2022)  - p. , 2022
Link: https://doi.org/10.3389/..
 
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9

Systematic analysis and prediction of genes associated with..:

Leitão, Elsa ; Schröder, Christopher ; Parenti, Ilaria...
Nature Communications.  13 (2022)  1 - p. , 2022
Link: https://doi.org/10.1038/..
 
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10

Bi-allelic loss of function variants in SLC30A5 as cause of..:

Lieberwirth, Johann Kaspar ; Joset, Pascal ; Heinze, Anja...
European Journal of Human Genetics.  29 (2021)  5 - p. 808-815 , 2021
Link: https://doi.org/10.1038/..
 
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11

MFSD2A-associated primary microcephaly - Expanding the clin..:

Khuller, Katharina ; Yigit, Gökhan ; Martínez Grijalva, Carolina...
European Journal of Medical Genetics.  64 (2021)  10 - p. 104310 , 2021
Link: https://doi.org/10.1016/..
 
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12

Clinical relevance of postzygotic mosaicism in Cornelia de ..:

Latorre-Pellicer, Ana ; Gil-Salvador, Marta ; Parenti, Ilaria...
Scientific Reports.  11 (2021)  1 - p. , 2021
Link: https://doi.org/10.1038/..
 
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13

A homozygous nonsense mutation early in exon 5 of BRCA2 is ..:

Radulovic, Ivana ; Kuechler, Alma ; Schündeln, Michael M....
European Journal of Medical Genetics.  64 (2021)  8 - p. 104260 , 2021
Link: https://doi.org/10.1016/..
 
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14

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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15

De novo missense variants in FBXO11 alter its protein expre..:

Gregor, Anne ; Meerbrei, Tanja ; Gerstner, Thorsten...
Human Molecular Genetics.  31 (2021)  3 - p. 440-454 , 2021
Link: https://doi.org/10.1093/..
 
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