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Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome
Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome
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Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome

Wangler, Michael F ; Gonzaga-Jauregui, Claudia ; Gambin, Tomasz ; Penney, Samantha ; Moss, Timothy ; Chopra, Atul ; Probst, Frank J ; Xia, Fan ; Yang, Yaping ; Werlin, Steven ; Eglite, Ieva ; Kornejeva, Liene ; Bacino, Carlos A ; Baldridge, Dustin ; Neul, Jeff ; Lehman, Efrat Lev ; Larson, Austin ; Beuten, Joke ; Muzny, Donna M ; Jhangiani, Shalini ; Gibbs, Richard A ; Lupski, James R ; Beaudet, Arthur Barsh, Gregory S.

PLoS genetics, 2014-03, Vol.10 (3), p.e1004258-e1004258 [Periódico revisado por pares]

United States: Public Library of Science

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2
Clinical and Genetic Characterisation of Cystic Fibrosis Patients in Latvia: A Twenty-Five-Year Experience
Clinical and Genetic Characterisation of Cystic Fibrosis Patients in Latvia: A Twenty-Five-Year Experience
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Clinical and Genetic Characterisation of Cystic Fibrosis Patients in Latvia: A Twenty-Five-Year Experience

Auzenbaha, Madara ; Aleksejeva, Elina ; Taurina, Gita ; Kornejeva, Liene ; Kempa, Inga ; Svabe, Vija ; Gailite, Linda

Diagnostics (Basel), 2022-11, Vol.12 (11), p.2893 [Periódico revisado por pares]

Switzerland: MDPI AG

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3
The First Registered Type 0 Spinal Muscular Atrophy Patient in Latvia: Call for Change in Prenatal Diagnostic Procedures
The First Registered Type 0 Spinal Muscular Atrophy Patient in Latvia: Call for Change in Prenatal Diagnostic Procedures
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The First Registered Type 0 Spinal Muscular Atrophy Patient in Latvia: Call for Change in Prenatal Diagnostic Procedures

Čupāne, Tīna Luīze ; Dīriks, Mikus ; Tauriņa, Gita ; Korņejeva, Liene ; Gailīte, Linda ; Mālniece, Ieva ; Auzenbaha, Madara de Carvalho, Mamede ; Mamede de Carvalho

Case reports in medicine, 2023-06, Vol.2023, p.3480298-7 [Periódico revisado por pares]

United States: Hindawi

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4
A novel EDA variant causing X-linked hypohidrotic ectodermal dysplasia: Case report
A novel EDA variant causing X-linked hypohidrotic ectodermal dysplasia: Case report
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A novel EDA variant causing X-linked hypohidrotic ectodermal dysplasia: Case report

Alksere, Baiba ; Kornejeva, Liene ; Grinfelde, Ieva ; Dzalbs, Aigars ; Enkure, Dace ; Conka, Una ; Andersone, Santa ; Blumberga, Arita ; Nikitina-Zake, Liene ; Kangare, Liga ; Radovica-Spalvina, Ilze ; Vasiljeva, Inta ; Gailite, Linda ; Erenpreiss, Juris ; Fodina, Violeta

Molecular genetics and metabolism reports, 2021-12, Vol.29, p.100796, Article 100796 [Periódico revisado por pares]

Elsevier Inc

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5
A systematic review and standardized clinical validity assessment of genes involved in female reproductive failure
A systematic review and standardized clinical validity assessment of genes involved in female reproductive failure
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A systematic review and standardized clinical validity assessment of genes involved in female reproductive failure

Volozonoka, Ludmila ; Miskova, Anna ; Kornejeva, Liene ; Kempa, Inga ; Bargatina, Veronika ; Gailite, Linda

Reproduction (Cambridge, England), 2022-06, Vol.163 (6), p.351-363 [Periódico revisado por pares]

England: Bioscientifica Ltd

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6
Performance comparison of two whole genome amplification techniques in frame of multifactor preimplantation genetic testing
Performance comparison of two whole genome amplification techniques in frame of multifactor preimplantation genetic testing
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Performance comparison of two whole genome amplification techniques in frame of multifactor preimplantation genetic testing

Volozonoka, Ludmila ; Perminov, Dmitry ; Korņejeva, Liene ; Alkšere, Baiba ; Novikova, Natālija ; Pīmane, Evija Jokste ; Blumberga, Arita ; Kempa, Inga ; Miskova, Anna ; Gailīte, Linda ; Fodina, Violeta

Journal of assisted reproduction and genetics, 2018-08, Vol.35 (8), p.1457-1472 [Periódico revisado por pares]

New York: Springer US

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7
Reducing misdiagnosis caused by maternal cell contamination in genetic testing for early pregnancy loss
Reducing misdiagnosis caused by maternal cell contamination in genetic testing for early pregnancy loss
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Reducing misdiagnosis caused by maternal cell contamination in genetic testing for early pregnancy loss

Volozonoka, Ludmila ; Gailite, Linda ; Perminov, Dmitrijs ; Kornejeva, Liene ; Fodina, Violeta ; Kempa, Inga ; Miskova, Anna

Systems biology in reproductive medicine, 2020-11, Vol.66 (6), p.410-420 [Periódico revisado por pares]

Taylor & Francis

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8
First preimplantation genetic testing case for monogenic disease in Latvia
First preimplantation genetic testing case for monogenic disease in Latvia
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First preimplantation genetic testing case for monogenic disease in Latvia

Perminov, Dmitry ; Voložonoka, Ludmila ; Korņejeva, Liene ; Jokste-Pțmane, Evija ; Blumberga, Arita ; Krasucka, Sandra ; Seimuškina, Nellija ; Kovaļova, Irina ; Fodina, Violeta

Gynecological endocrinology, 2017-01, Vol.33 (sup1), p.47-49 [Periódico revisado por pares]

England

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9
The outcomes after transfers of embryos with chromosomal mosaicism: a single reproductive medicine center experience at iVF Riga clinic
The outcomes after transfers of embryos with chromosomal mosaicism: a single reproductive medicine center experience at iVF Riga clinic
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The outcomes after transfers of embryos with chromosomal mosaicism: a single reproductive medicine center experience at iVF Riga clinic

Alksere, Baiba ; Grinfelde, Ieva ; Kornejeva, Liene ; Dzalbs, Aigars ; Vedmedovska, Natalija ; Kovalova, Irina ; Conka, Una ; Andersone, Santa ; Krasucka, Sandra ; Blumberga, Arita ; Berzina, Dace ; Fodina, Violeta

Gynecological endocrinology, 2020-12, Vol.36 (S1), p.53-57 [Periódico revisado por pares]

Taylor & Francis

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10
High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses
High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses
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High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses

Hammarsjö, Anna ; Pettersson, Maria ; Chitayat, David ; Handa, Atsuhiko ; Anderlid, Britt-Marie ; Bartocci, Marco ; Basel, Donald ; Batkovskyte, Dominyka ; Beleza-Meireles, Ana ; Conner, Peter ; Eisfeldt, Jesper ; Girisha, Katta M ; Chung, Brian Hon-Yin ; Horemuzova, Eva ; Hyodo, Hironobu ; Korņejeva, Liene ; Lagerstedt-Robinson, Kristina ; Lin, Angela E ; Magnusson, Måns ; Moosa, Shahida ; Nayak, Shalini S ; Nilsson, Daniel ; Ohashi, Hirofumi ; Ohashi-Fukuda, Naoko ; Stranneheim, Henrik ; Taylan, Fulya ; Traberg, Rasa ; Voss, Ulrika ; Wirta, Valtteri ; Nordgren, Ann ; Nishimura, Gen ; Lindstrand, Anna ; Grigelioniene, Giedre

Journal of human genetics, 2021-10, Vol.66 (10), p.995-1008 [Periódico revisado por pares]

England: Nature Publishing Group

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