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Dafsari, Hormos Salimi
33  results:
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1

Expanding the phenotype of PPP1R21‐related neurodevelopment..:

Almannai, Mohammed ; Marafi, Dana ; Zaki, Maha S....
Clinical Genetics.  105 (2024)  6 - p. 620-629 , 2024
Link: https://doi.org/10.1111/..
 
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2

Biallelic null variants in PNPLA8 cause microcephaly by red..:

Nakamura, Yuji ; Shimada, Issei S ; Maroofian, Reza...
Brain.  , 2024
Link: https://doi.org/10.1093/..
 
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3

Novel Genetic and Phenotypic Expansion in Ameliorated PUF60..:

Baum, Emily ; Huang, Wenming ; Vincent-Delorme, Catherine...
International Journal of Molecular Sciences.  25 (2024)  4 - p. 2053 , 2024
Link: https://doi.org/10.3390/..
 
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4

Atopy and Elevation of IgE, IgG3, and IgG4 May Be Risk Fact..:

Körner, Robert Walter ; Bansemir, Ole Yannick ; Franke, Rosa..
Children.  10 (2023)  10 - p. 1598 , 2023
Link: https://doi.org/10.3390/..
 
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5

Novel Genetic and Phenotypic Expansion in GOSR2-Related Pro..:

Hentrich, Lea ; Parnes, Mered ; Lotze, Timothy Edward...
Genes.  14 (2023)  10 - p. 1860 , 2023
Link: https://doi.org/10.3390/..
 
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6

PI4K2A deficiency causes innate error in intracellular traf..:

Dafsari, Hormos Salimi ; Pemberton, Joshua G. ; Ferrer, Elizabeth A....
Annals of Clinical and Translational Neurology.  9 (2022)  9 - p. 1345-1358 , 2022
Link: https://doi.org/10.1002/..
 
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7

Genomic profiling in neuronal dyneinopathies and updated cl..:

Dafsari, Hormos Salimi ; Becker, Lena‐Luise ; von der Hagen, Maja.
American Journal of Medical Genetics Part A.  185 (2021)  8 - p. 2607-2610 , 2021
Link: https://doi.org/10.1002/..
 
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8

Genotype-phenotype correlations in ocular manifestations of..:

Bayram, Nurettin ; Kaçar Bayram, Ayşe ; Daimagüler, Hülya-Sevcan...
European Journal of Ophthalmology.  32 (2021)  3 - p. NP92-NP97 , 2021
Link: https://doi.org/10.1177/..
 
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9

The clinical-phenotype continuum in DYNC1H1-related disorde..:

Becker, Lena-Luise ; Dafsari, Hormos Salimi ; Schallner, Jens...
Journal of Human Genetics.  65 (2020)  11 - p. 1003-1017 , 2020
Link: https://doi.org/10.1038/..
 
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10

Genotype–phenotype correlation in seven motor neuron diseas..:

Sprute, Rosanne ; Jergas, Hannah ; Ölmez, Akgün...
American Journal of Medical Genetics Part A.  185 (2020)  2 - p. 344-354 , 2020
Link: https://doi.org/10.1002/..
 
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11

Bi-allelic mutations in uncoordinated mutant number-45 myos..:

Dafsari, Hormos Salimi ; Kocaturk, Nur Mehpare ; Daimagüler, Hülya-Sevcan...
Acta Neuropathologica Communications.  7 (2019)  1 - p. , 2019
Link: https://doi.org/10.1186/..
 
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12

Novel mutations in KMT2B offer pathophysiological insights ..:

Dafsari, Hormos Salimi ; Sprute, Rosanne ; Wunderlich, Gilbert...
Journal of Human Genetics.  64 (2019)  8 - p. 803-813 , 2019
Link: https://doi.org/10.1038/..
 
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13

Deficient body structural description contributes to apraxi..:

Dafsari, Hormos Salimi ; Dovern, Anna ; Fink, Gereon R..
Neuropsychologia.  133 (2019)  - p. 107150 , 2019
Link: https://doi.org/10.1016/..
 
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14

Use of whole exome sequencing in the NICU: Case of an extre..:

Kuehne, Benjamin ; Heine, Eva ; Dafsari, Hormos Salimi...
Molecular and Cellular Probes.  45 (2019)  - p. 89-93 , 2019
Link: https://doi.org/10.1016/..
 
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15

Correction to: Novel mutations in KMT2B offer pathophysiolo..:

Dafsari, Hormos Salimi ; Sprute, Rosanne ; Wunderlich, Gilbert...
Journal of Human Genetics.  64 (2019)  10 - p. 1051-1054 , 2019
Link: https://doi.org/10.1038/..
 
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