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Papers matching “compound heterozygosity” 9

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The Potential Effect of Nav1.8 in Autism Spectrum Disorder: Evidence from A Congenital Case with Compound Heterozygous SCN10A Mutations
2020 preprint Neuroscience Autism Spectrum Disorder Research Open access

Björn Heinrichs, Baowen Liu, Jin Zhang, Jannis Meents, Kim Huyen Trang Le, Petra A. I. Hautvast, +7 more

0

citations
The Potential Effect of Nav1.8 in Autism Spectrum Disorder: Evidence from a Congenital Case with Compound Heterozygous SCN10A Mutations
2020 Research Square preprint Neuroscience Autism Spectrum Disorder Research Open access

Björn Heinrichs, Baowen Liu, Jin Zhang, Jannis Meents, Kim Huyen Trang Le, Petra A. I. Hautvast, +7 more

0

citations
BICC1 Interacts with PKD1 and PKD2 to Drive Cystogenesis in ADPKD
2024 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Genetic and Kidney Cyst Diseases Open access

Uyen Tran, Andrew J. Streets, Devon Smith, Annemarie Kirschfink, Lahoucine Izem, Jessie M Hassey, +9 more

3

citations
BICC1 Interacts with PKD1 and PKD2 to Drive Cystogenesis in ADPKD
2025 eLife preprint Biochemistry, Genetics and Molecular Biology Genetic and Kidney Cyst Diseases Open access

Uyen Tran, Andrew J. Streets, Devon Smith, Annemarie Kirschfink, Lahoucine Izem, Jessie M Hassey, +9 more

0

citations
BICC1 Interacts with PKD1 and PKD2 to Drive Cystogenesis in ADPKD
2025 eLife preprint Biochemistry, Genetics and Molecular Biology Genetic and Kidney Cyst Diseases Open access

Uyen Tran, Andrew J. Streets, Devon Smith, Annemarie Kirschfink, Lahoucine Izem, Jessie M Hassey, +9 more

0

citations
BICC1 interacts with PKD1 and PKD2 to drive cystogenesis in ADPKD
2025 eLife preprint Biochemistry, Genetics and Molecular Biology Genetic and Kidney Cyst Diseases Open access

Uyen Tran, Andrew J. Streets, Devon Smith, Annemarie Kirschfink, Lahoucine Izem, Jessie M Hassey, +9 more

0

citations
Bi-allelic NIT1 variants cause small vessel disease with movement disorders and massive non-lobar intracerebral haemorrhage
2023 medRxiv preprint Medicine Intracerebral and Subarachnoid Hemorrhage Research Open access

Julie W. Rutten, Minne N. Cerfontaine, Kyra L. Dijkstra, Aat A. Mulder, Mark C. Kruit, Roman I. Koning, +11 more

0

citations
Biallelic loss of LDB3 leads to a lethal pediatric dilated cardiomyopathy
2022 Research Square preprint Medicine Cardiomyopathy and Myosin Studies Open access

Yalda Jamshidi, Tamara T. Koopmann, Mohammadreza Naghibi-Sistani, Heleen M. van der Klift, Hassan Birjandi, Zuhair Nasser Al-Hassnan, +17 more

1

citations
Novel Splice-Site and Missense Variant of PNPLA6 in an Austrian Family Causing Spastic Paraplegia-39 with Cerebellar Oculomotor Disorder
2022 Research Square preprint Neuroscience Hereditary Neurological Disorders Open access

Sebastian Viertauer, Ingo Kurth, Katja Eggermann, Christian Eggers

0

citations

9 results