Search Results - "Gall, Kim" :: K.UTB vyhledávací portál | TBU Library Retrieval Portal

P622: Genetic results in a cohort of 489 patients with inherited myopathies

P622: Genetic results in a cohort of 489 patients with inherited myopathies

by Gall, Kim, Hathaway, Julie, Koskinen, Lotta, Alakurtti, Kirsi, Hagström, Äsa, Segura, Monica, Kuisma, Heli, Seppala, Eija, Djupsjöbacka, Janica, Muona, Mikko, Pietila, Tuuli, Salmenperä, Pertteli, Saarinen, Inka, Veeraraghavan, Ray, Myllykangas, Samuel, Koskenvuo, Juha
Published in Genetics in Medicine Open (2024)

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P577: Genetic findings in afor cohort of over 1,800 patients tested with a combined cardiomyopathy and arrhythmia panel

P577: Genetic findings in afor cohort of over 1,800 patients tested with a combined cardiomyopathy and arrhythmia panel

by Hathaway, Julie, Huusko, Johanna, Cicerchia, Marcos, Ahonen, Saija, Tommiska, Johanna, Gall, Kim, Liaquat, Khalida, Howell, Victoria, Sluyters, Allison, Djupsjöbacka, Janica, Muona, Mikko, Saarinen, Inka, Seppala, Eija, Kangas-Kontio, Tiia, Koskinen, Lotta, Salmenperä, Pertteli, Myllykangas, Samuel, Koskenvuo, Juha
Published in Genetics in Medicine Open (2024)

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Next-generation sequencing panels for hereditary hearing loss testing with approaches for difficult-to-sequence regions

Next-generation sequencing panels for hereditary hearing loss testing with approaches for difficult-to-sequence regions

by Gall, Kim, Tuupanen, Sari, Sarantaus, Laura, Gandia, Marta, Duzkale, Hatice, Saarinen, Inka, Sistonen, Johanna, Koskenvuo, Juha, Alastalo, Tero-Pekka
Published in Molecular genetics and metabolism (01.04.2021)

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OP086 - Diagnostic yield and clinical utility of genetic testing in children with seizure onset after 2 years of age: an update

OP086 - Diagnostic yield and clinical utility of genetic testing in children with seizure onset after 2 years of age: an update

by Liaquat, Khalida, Gall, Kim, Izzo, Emmanuela, Singh, Akashdeep, Alakurtti, Kirsi, Seppala, Eija, Koskinen, Lotta, Koskenvuo, Juha, Alastalo, Tero-Pekka
Published in Molecular genetics and metabolism (01.04.2021)

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eP345 - Next-generation sequencing panels for hereditary hearing loss testing with approaches for difficult-to-sequence regions

eP345 - Next-generation sequencing panels for hereditary hearing loss testing with approaches for difficult-to-sequence regions

by Gall, Kim, Tuupanen, Sari, Sarantaus, Laura, Gandia, Marta, Duzkale, Hatice, Saarinen, Inka, Sistonen, Johanna, Koskenvuo, Juha, Alastalo, Tero-Pekka
Published in Molecular genetics and metabolism (01.04.2021)

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Diagnostic utility of next-generation sequencing panel tests in the diagnosis of skeletal dysplasias

Diagnostic utility of next-generation sequencing panel tests in the diagnosis of skeletal dysplasias

by Scocchia, Alicia, Kangas-Kontio, Tiia, Pelttari, Liisa, Gall, Kim, Saarinen, Inka, Sistonen, Johanna, Koskenvuo, Juha, Alastalo, Tero-Pekka
Published in Molecular genetics and metabolism (01.04.2021)

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Journal Article

eP346 - Diagnostic utility of next-generation sequencing panel tests in the diagnosis of skeletal dysplasias

eP346 - Diagnostic utility of next-generation sequencing panel tests in the diagnosis of skeletal dysplasias

by Scocchia, Alicia, Kangas-Kontio, Tiia, Pelttari, Liisa, Gall, Kim, Saarinen, Inka, Sistonen, Johanna, Koskenvuo, Juha, Alastalo, Tero-Pekka
Published in Molecular genetics and metabolism (01.04.2021)

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Journal Article

Diagnostic yield and clinical utility of genetic testing in children with seizure onset after 2 years of age: an update

Diagnostic yield and clinical utility of genetic testing in children with seizure onset after 2 years of age: an update

by Liaquat, Khalida, Gall, Kim, Izzo, Emmanuela, Singh, Akashdeep, Alakurtti, Kirsi, Seppala, Eija, Koskinen, Lotta, Koskenvuo, Juha, Alastalo, Tero-Pekka
Published in Molecular genetics and metabolism (01.04.2021)

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Journal Article

eP363 - Retrospective review of genetic testing for inherited bone marrow failure syndromes

eP363 - Retrospective review of genetic testing for inherited bone marrow failure syndromes

by Jacher, Joe, Scocchia, Alicia, Kokkonen, Päivi, Hirvonen, Elina, Mårtensson, Emma, Duzkale, Hatice, Gall, Kim, Powis, Zoe, Saarinen, Inka, Sistonen, Johanna, Koskenvuo, Juha, Koskinen, Lotta, Alastalo, Tero-Pekka
Published in Molecular genetics and metabolism (01.04.2021)

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Journal Article

Retrospective review of genetic testing for inherited bone marrow failure syndromes

Retrospective review of genetic testing for inherited bone marrow failure syndromes

by Jacher, Joe, Scocchia, Alicia, Kokkonen, Päivi, Hirvonen, Elina, Mårtensson, Emma, Duzkale, Hatice, Gall, Kim, Powis, Zoe, Saarinen, Inka, Sistonen, Johanna, Koskenvuo, Juha, Koskinen, Lotta, Alastalo, Tero-Pekka
Published in Molecular genetics and metabolism (01.04.2021)

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eP351: Next-generation sequencing panels for cystic kidney disease with improvements for sequencing and alignment challenges

eP351: Next-generation sequencing panels for cystic kidney disease with improvements for sequencing and alignment challenges

by Hathaway, Julie, Scocchia, Alicia, Huusko, Johanna, Bernal, Manuel, Saarinen, Inka, Rantanen, Matias, Schleit, Jennifer, Kangas-Kontio, Tiia, Pietila, Tuuli, Salmenpera, Pertteli, Gentile, Massimiliano, Myllykangas, Samuel, Koskenvuo, Juha, Gall, Kim
Published in Genetics in medicine (01.03.2022)

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Biallelic NRAP variants are a significant cause of dilated cardiomyopathy

Biallelic NRAP variants are a significant cause of dilated cardiomyopathy

by Gall, Kim, Koskenvuo, Juha, Saarinen, Inka, Tommiska, Johanna, Weckstrom, Sini, Seppala, Eija, Tuupanen, Sari, Kangas-Kontio, Tiia, Schleit, Jennifer, Hathaway, Julie, Muona, Mikko, Sistonen, Johanna, Salmenpera, Pertelli, Gentile, Massimiliano, Paananen, Jussi, Alastalo, Tero-Pekka, Helio, Tiina
Published in Molecular genetics and metabolism (01.04.2021)

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Journal Article

eP343 - Biallelic NRAP variants are a significant cause of dilated cardiomyopathy

eP343 - Biallelic NRAP variants are a significant cause of dilated cardiomyopathy

by Gall, Kim, Koskenvuo, Juha, Saarinen, Inka, Tommiska, Johanna, Weckstrom, Sini, Seppala, Eija, Tuupanen, Sari, Kangas-Kontio, Tiia, Schleit, Jennifer, Hathaway, Julie, Muona, Mikko, Sistonen, Johanna, Salmenpera, Pertelli, Gentile, Massimiliano, Paananen, Jussi, Alastalo, Tero-Pekka, Helio, Tiina
Published in Molecular genetics and metabolism (01.04.2021)

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Steroid sulfatase deficiency and contiguous gene deletion syndrome amongst pregnant patients with low serum unconjugated estriols

Steroid sulfatase deficiency and contiguous gene deletion syndrome amongst pregnant patients with low serum unconjugated estriols

by Langlois, Sylvie, Armstrong, Linlea, Gall, Kim, Hulait, Gurdip, Livingston, Janet, Nelson, Tanya, Power, Patricia, Pugash, Denise, Siciliano, Dawn, Steinraths, Michelle, Mattman, André
Published in Prenatal diagnosis (01.10.2009)

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A novel de novo 1.1 Mb duplication of 17q21.33 associated with cognitive impairment and other anomalies

A novel de novo 1.1 Mb duplication of 17q21.33 associated with cognitive impairment and other anomalies

by Zahir, Farah R., Langlois, Sylvie, Gall, Kim, Eydoux, Patrice, Marra, Marco A., Friedman, Jan M.
Published in American journal of medical genetics. Part A (01.06.2009)

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Journal Article

A novel de novo 1.1 Mb duplication of 17q21.33 associated with cognitive impairment and other anomalies

A novel de novo 1.1 Mb duplication of 17q21.33 associated with cognitive impairment and other anomalies

by Zahir, Farah R., Langlois, Sylvie, Gall, Kim, Eydoux, Patrice, Marra, Marco A., Friedman, Jan M.
Published in American Journal of Medical Genetics Part A (01.06.2009)

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