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1 . Academic Journal
The First Registered Type 0 Spinal Muscular Atrophy Patient in Latvia: Call for Change in Prenatal Diagnostic Procedures
저자
by
Tīna Luīze Čupāne
;
Mikus Dīriks
;
Gita Tauriņa
;
Liene Korņejeva
;
Linda Gailīte
, et al.
소스
Case Reports in Medicine, Vol 2023 (2023)
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Web of Science
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7 . Academic Journal
A novel EDA variant causing X-linked hypohidrotic ectodermal dysplasia: Case report
저자
by
Baiba Alksere
;
Liene Kornejeva
;
Ieva Grinfelde
;
Aigars Dzalbs
;
Dace Enkure
, et al.
소스
Molecular Genetics and Metabolism Reports, Vol 29, Iss , Pp 100796- (2021)
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7 . Academic Journal
Clinical and Genetic Characterisation of Cystic Fibrosis Patients in Latvia: A Twenty-Five-Year Experience
저자
by
Madara Auzenbaha
;
Elina Aleksejeva
;
Gita Taurina
;
Liene Kornejeva
;
Inga Kempa
, et al.
소스
Diagnostics, Vol 12, Iss 11, p 2893 (2022)
Open Access (DOAJ)
Web of Science
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7 . Academic Journal
Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome.
저자
by
Michael F Wangler
;
Claudia Gonzaga-Jauregui
;
Tomasz Gambin
;
Samantha Penney
;
Timothy Moss
, et al.
소스
PLoS Genetics, Vol 10, Iss 3, p e1004258 (2014)
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7 .
The first registered type 0 spinal muscular atrophy patient in Latvia: call for change in prenatal diagnostic procedures, case report
저자
by
Tina Luize Cupane
;
Mikus Diriks
;
Gita Taurina
;
Liene Kornejeva
;
Linda Gailite
, et al.
소스
Open Access (OpenAIRE)
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7 .
The outcomes after transfers of embryos with chromosomal mosaicism: a single reproductive medicine center experience at iVF Riga clinic
저자
by
Baiba Alksere
;
Sandra Krasucka
;
Una Conka
;
Irina Kovalova
;
Violeta Fodina
, et al.
소스
Gynecological Endocrinology
. 36:53-57
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7 .
Overview of Neuromuscular Disorder Molecular Diagnostic Experience for the Population of Latvia
저자
by
Baiba Lace
;
Ieva Micule
;
Viktorija Kenina
;
Signe Setlere
;
Jurgis Strautmanis
, et al.
소스
Neurology. Genetics
. 8(3)
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7 .
A systematic review and standardized clinical validity assessment of genes involved in female reproductive failure
저자
by
Ludmila Volozonoka
;
Anna Miskova
;
Liene Kornejeva
;
Inga Kempa
;
Veronika Bargatina
, et al.
소스
Reproduction (Cambridge, England)
. 163(6)
Open Access (OpenAIRE)
Scopus
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7 .
A novel EDA variant causing X-linked hypohidrotic ectodermal dysplasia: Case report
저자
by
Violeta Fodina
;
Linda Gailite
;
Inta Vasiljeva
;
Baiba Alksere
;
Liga Kangare
, et al.
소스
Molecular Genetics and Metabolism Reports, Vol 29, Iss, Pp 100796-(2021)
Molecular Genetics and Metabolism Reports
Open Access (OpenAIRE)
Scopus
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7 .
High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses
저자
by
Ulrika Voss
;
Maria Pettersson
;
Peter Conner
;
Angela E. Lin
;
Anna Hammarsjö
, et al.
소스
Journal of Human Genetics
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