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Expanding the mutational spectrum of monogenic hypogonadotropic hypogonadism: novel mutations in ANOS1 and FGFR1 genes
by
Gach, Agnieszka
,
Pinkier, Iwona
,
Szarras-Czapnik, Maria
,
Sakowicz, Agata
,
Jakubowski, Lucjusz
Published in
Reproductive biology and endocrinology
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To Test or Not to Test: Routine Thrombophilia Diagnostic Screening of Women with Reproductive Failures
by
Wysocka, Urszula
,
Sałacińska, Kinga
,
Pinkier, Iwona
,
Kępczyński, Łukasz
,
Ałaszewski, Wojciech
,
Dudarewicz, Lech
,
Gach, Agnieszka
Published in
Journal of clinical medicine
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NGS analysis of collagen type I genes in Polish patients with Osteogenesis imperfecta: a nationwide multicenter study
by
Sałacińska, Kinga
,
Pinkier, Iwona
,
Rutkowska, Lena
,
Chlebna-Sokół, Danuta
,
Jakubowska-Pietkiewicz, Elżbieta
,
Michałus, Izabela
,
Kępczyński, Łukasz
,
Salachna, Dominik
,
Wieczorek-Cichecka, Nina
,
Piotrowicz, Małgorzata
,
Chilarska, Tatiana
,
Jamsheer, Aleksander
,
Matusik, Paweł
,
Wilk, Małgorzata
,
Petriczko, Elżbieta
,
Giżewska, Maria
,
Stecewicz, Iwona
,
Walczak, Mieczysław
,
Rybak-Krzyszkowska, Magda
,
Lewiński, Andrzej
,
Gach, Agnieszka
Published in
Frontiers in endocrinology (Lausanne)
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Identification of New Copy Number Variation and the Evaluation of a CNV Detection Tool for NGS Panel Data in Polish Familial Hypercholesterolemia Patients
by
Rutkowska, Lena
,
Pinkier, Iwona
,
Sałacińska, Kinga
,
Kępczyński, Łukasz
,
Salachna, Dominik
,
Lewek, Joanna
,
Banach, Maciej
,
Matusik, Paweł
,
Starostecka, Ewa
,
Lewiński, Andrzej
,
Płoski, Rafał
,
Stawiński, Piotr
,
Gach, Agnieszka
Published in
Genes
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New findings in oligogenic inheritance of congenital hypogonadotropic hypogonadism
by
Gach, Agnieszka
,
Pinkier, Iwona
,
Wysocka, Urszula
,
Sałacińska, Kinga
,
Salachna, Dominik
,
Szarras-Czapnik, Maria
,
Pietrzyk, Aleksandra
,
Sakowicz, Agata
,
Nykel, Anna
,
Rutkowska, Lena
,
Rybak-Krzyszkowska, Magda
,
Socha, Magda
,
Jamsheer, Aleksander
,
Jakubowski, Lucjusz
Published in
Archives of medical science
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Novel Mutations Within Collagen Alpha1(I) and Alpha2(I) Ligand-Binding Sites, Broadening the Spectrum of Osteogenesis Imperfecta – Current Insights Into Collagen Type I Lethal Regi...
by
Sałacińska, Kinga
,
Pinkier, Iwona
,
Rutkowska, Lena
,
Chlebna-Sokół, Danuta
,
Jakubowska-Pietkiewicz, Elżbieta
,
Michałus, Izabela
,
Kępczyński, Łukasz
,
Salachna, Dominik
,
Jamsheer, Aleksander
,
Bukowska-Olech, Ewelina
,
Jaszczuk, Ilona
,
Jakubowski, Lucjusz
,
Gach, Agnieszka
Published in
Frontiers in genetics
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Identification of New Genetic Determinants in Pediatric Patients with Familial Hypercholesterolemia Using a Custom NGS Panel
by
Rutkowska, Lena
,
Sałacińska, Kinga
,
Salachna, Dominik
,
Matusik, Paweł
,
Pinkier, Iwona
,
Kępczyński, Łukasz
,
Piotrowicz, Małgorzata
,
Starostecka, Ewa
,
Lewiński, Andrzej
,
Gach, Agnieszka
Published in
Genes
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The first glycine‐to‐tryptophan substitution in the COL1A1 gene identified in a patient with progressively‐deforming Osteogenesis imperfecta
by
Sałacińska, Kinga
,
Michałus, Izabela
,
Pinkier, Iwona
,
Rutkowska, Lena
,
Chlebna‐Sokół, Danuta
,
Jakubowska‐Pietkiewicz, Elżbieta
,
Kępczyński, Łukasz
,
Salachna, Dominik
,
Gach, Agnieszka
Published in
Molecular genetics & genomic medicine
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A Novel Intronic Splice-Site Mutation of the CYP11A1 Gene Linked to Adrenal Insufficiency with 46,XY Disorder of Sex Development
by
Matusik, Pawel
,
Gach, Agnieszka
,
Zajdel-Cwynar, Olimpia
,
Pinkier, Iwona
,
Kudela, Grzegorz
,
Gawlik, Aneta
Published in
International journal of environmental research and public health
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Identification of gene variants in a cohort of hypogonadotropic hypogonadism: Diagnostic utility of custom NGS panel and WES in unravelling genetic complexity of the disease
by
Gach, Agnieszka
,
Pinkier, Iwona
,
Sałacińska, Kinga
,
Szarras-Czapnik, Maria
,
Salachna, Dominik
,
Kucińska, Agata
,
Rybak-Krzyszkowska, Magda
,
Sakowicz, Agata
Published in
Molecular and cellular endocrinology
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A Novel Intronic Splice-Site Mutation of the CYP11A1 Gene Linked to Adrenal Insufficiency with 46,XY Disorder of Sex Development
by
Matusik, Pawel
,
Gach, Agnieszka
,
Zajdel-Cwynar, Olimpia
,
Pinkier, Iwona
,
Kudela, Grzegorz
,
Gawlik, Aneta
Published in
International journal of environmental research and public health
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