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Daimagüler, Hülya-Sevcan
31  results:
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1

Making sense of missense variants in TTN-related congenital..:

Rees, Martin ; Nikoopour, Roksana ; Fukuzawa, Atsushi...
Acta Neuropathologica.  141 (2021)  3 - p. 431-453 , 2021
Link: https://doi.org/10.1007/..
 
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2

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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3

Correction: The genomic and clinical landscape of fetal aki..:

Pergande, Matthias ; Motameny, Susanne ; Özdemir, Özkan...
Genetics in Medicine.  22 (2020)  8 - p. 1426-1428 , 2020
Link: https://doi.org/10.1038/..
 
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4

The genomic and clinical landscape of fetal akinesia:

Pergande, Matthias ; Motameny, Susanne ; Özdemir, Özkan...
Genetics in Medicine.  22 (2020)  3 - p. 511-523 , 2020
Link: https://doi.org/10.1038/..
 
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5

On the differential diagnosis of neuropathy in neurogenetic..:

Cirak, Sebahattin ; Daimagüler, Hülya-Sevcan ; Moawia, Abubakar..
Medizinische Genetik.  32 (2020)  3 - p. 243-261 , 2020
Link: https://doi.org/10.1515/..
 
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6

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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7

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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8

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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9

Clinical outcomes of two patients with a novel pathogenic v..:

Sprute, Rosanne ; Ardicli, Didem ; Oguz, Kader Karli...
Human Genome Variation.  6 (2019)  1 - p. , 2019
Link: https://doi.org/10.1038/..
 
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10

A novel SPEG mutation causes non-compaction cardiomyopathy ..:

Wang, Haicui ; Schänzer, Anne ; Kampschulte, Birgit...
Acta Neuropathologica Communications.  6 (2018)  1 - p. , 2018
Link: https://doi.org/10.1186/..
 
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11

Making sense of missense variants in TTN-related congenital..:

Rees, Martin ; Nikoopour, Roksana ; Fukuzawa, Atsushi...
info:eu-repo/semantics/altIdentifier/doi/10.1007/s00401-020-02257-0.  , 2021
Link: https://hal.archives-ouv..
 
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12

Making sense of missense variants in TTN-related congenital..:

Rees, Martin ; Nikoopour, Roksana ; Fukuzawa, Atsushi...
info:eu-repo/semantics/altIdentifier/doi/10.1007/s00401-020-02257-0.  , 2021
Link: https://hal.science/hal-..
 
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13

Making sense of missense variants in TTN-related congenital..:

Rees, Martin ; Nikoopour, Roksana ; Fukuzawa, Atsushi...
boreal:261635.  , 2021
Link: http://hdl.handle.net/20..
 
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14

Making sense of missense variants in TTN-related congenital..:

Rees, Martin ; Nikoopour, Roksana ; Fukuzawa, Atsushi...
info:eu-repo/semantics/altIdentifier/doi/10.1007/s00401-020-02257-0.  , 2021
Link: https://hal.science/hal-..
 
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15

Making sense of missense variants in TTN-related congenital..:

Rees, Martin ; Nikoopour, Roksana ; Fukuzawa, Atsushi...
info:eu-repo/semantics/altIdentifier/doi/10.1007/s00401-020-02257-0.  , 2021
Link: https://hal.science/hal-..
 
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