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Association of human aging with a functional variant of klotho. [electronic resource] by
- Arking, Dan E
- Krebsova, Alice
- Macek, Milan
- Macek, Milan
- Arking, Albert
- Mian, I Saira
- Fried, Linda
- Hamosh, Ada
- Dey, Srabani
- McIntosh, Iain
- Dietz, Harry C
Producer: 20020429
In:
Proceedings of the National Academy of Sciences of the United States of America vol. 99
Availability: No items available.
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QF-PCR examination of parental and meiotic origin of trisomy 21 in Central and Eastern Europe. [electronic resource] by
- Machatkova, Marina
- Brouckova, Martina
- Matejckova, Milada
- Krebsova, Alice
- Sperling, Karl
- Vorsanova, Svetlana
- Kutsev, Sergei
- Zerova, Tatiana
- Arbuzova, Svetlana
- Krejci, Roman
- Petersen, Michael
- Macek, Milan
Producer: 20050422
In:
The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society vol. 53
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LAMP2 exon-copy number variations in Danon disease heterozygote female probands: Infrequent or underdetected? [electronic resource] by
- Majer, Filip
- Piherova, Lenka
- Reboun, Martin
- Stara, Veronika
- Pelak, Ondrej
- Norambuena, Patricia
- Stranecky, Viktor
- Krebsova, Alice
- Vlaskova, Hana
- Dvorakova, Lenka
- Kmoch, Stanislav
- Kalina, Tomas
- Kubanek, Milos
- Sikora, Jakub
Producer: 20190925
In:
American journal of medical genetics. Part A vol. 176
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8.
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Alu-mediated Xq24 deletion encompassing CUL4B, LAMP2, ATP1B4, TMEM255A, and ZBTB33 genes causes Danon disease in a female patient. [electronic resource] by
- Majer, Filip
- Kousal, Bohdan
- Dusek, Petr
- Piherova, Lenka
- Reboun, Martin
- Mihalova, Romana
- Gurka, Jiri
- Krebsova, Alice
- Vlaskova, Hana
- Dvorakova, Lenka
- Krihova, Jana
- Liskova, Petra
- Kmoch, Stanislav
- Kalina, Tomas
- Kubanek, Milos
- Sikora, Jakub
Producer: 20201228
In:
American journal of medical genetics. Part A vol. 182
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9.
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Fine mapping of autosomal dominant nonsyndromic hearing impairment DFNA21 to chromosome 6p24.1-22.3. [electronic resource] by
- de Brouwer, Arjan P M
- Kunst, Hendrikus P M
- Krebsova, Alice
- van Asseldonk, Karin
- Reis, André
- Snoeckx, Rik L
- Van Camp, Guy
- Cremers, Cor W R J
- Cremers, Frans P M
- Kremer, Hannie
Producer: 20050822
In:
American journal of medical genetics. Part A vol. 137
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Distribution of CFTR mutations in the Czech population: positive impact of integrated clinical and laboratory expertise, detection of novel/de novo alleles and relevance for related/derived populations. [electronic resource] by
- Křenková, Petra
- Piskáčková, Tereza
- Holubová, Andrea
- Balaščaková, Miroslava
- Krulišová, Veronika
- Čamajová, Jana
- Turnovec, Marek
- Libik, Malgorzata
- Norambuena, Patricia
- Štambergová, Alexandra
- Dvořáková, Lenka
- Skalická, Veronika
- Bartošová, Jana
- Kučerová, Tereza
- Fila, Libor
- Zemková, Dana
- Vávrová, Věra
- Koudová, Monika
- Macek, Milan
- Krebsová, Alice
- Macek, Milan
Producer: 20131230
In:
Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society vol. 12
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11.
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Desminopathy: Novel Desmin Variants, a New Cardiac Phenotype, and Further Evidence for Secondary Mitochondrial Dysfunction. [electronic resource] by
- Kubánek, Miloš
- Schimerová, Tereza
- Piherová, Lenka
- Brodehl, Andreas
- Krebsová, Alice
- Ratnavadivel, Sandra
- Stanasiuk, Caroline
- Hansíková, Hana
- Zeman, Jiří
- Paleček, Tomáš
- Houštěk, Josef
- Drahota, Zdeněk
- Nůsková, Hana
- Mikešová, Jana
- Zámečník, Josef
- Macek, Milan
- Ridzoň, Petr
- Malusková, Jana
- Stránecký, Viktor
- Melenovský, Vojtěch
- Milting, Hendrik
- Kmoch, Stanislav
Publication details: Journal of clinical medicine Mar 2020
In:
Journal of clinical medicine vol. 9
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12.
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Candidate Gene Resequencing in a Large Bicuspid Aortic Valve-Associated Thoracic Aortic Aneurysm Cohort: [electronic resource] by
- Gillis, Elisabeth
- Kumar, Ajay A
- Luyckx, Ilse
- Preuss, Christoph
- Cannaerts, Elyssa
- van de Beek, Gerarda
- Wieschendorf, Björn
- Alaerts, Maaike
- Bolar, Nikhita
- Vandeweyer, Geert
- Meester, Josephina
- Wünnemann, Florian
- Gould, Russell A
- Zhurayev, Rustam
- Zerbino, Dmytro
- Mohamed, Salah A
- Mital, Seema
- Mertens, Luc
- Björck, Hanna M
- Franco-Cereceda, Anders
- McCallion, Andrew S
- Van Laer, Lut
- Verhagen, Judith M A
- van de Laar, Ingrid M B H
- Wessels, Marja W
- Messas, Emmanuel
- Goudot, Guillaume
- Nemcikova, Michaela
- Krebsova, Alice
- Kempers, Marlies
- Salemink, Simone
- Duijnhouwer, Toon
- Jeunemaitre, Xavier
- Albuisson, Juliette
- Eriksson, Per
- Andelfinger, Gregor
- Dietz, Harry C
- Verstraeten, Aline
- Loeys, Bart L
Publication details: Frontiers in physiology 2017
In:
Frontiers in physiology vol. 8
Availability: No items available.
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13.
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Corrigendum: Candidate Gene Resequencing in a Large Bicuspid Aortic Valve-Associated Thoracic Aortic Aneurysm Cohort: [electronic resource] by
- Gillis, Elisabeth
- Kumar, Ajay A
- Luyckx, Ilse
- Preuss, Christoph
- Cannaerts, Elyssa
- van de Beek, Gerarda
- Wieschendorf, Björn
- Alaerts, Maaike
- Bolar, Nikhita
- Vandeweyer, Geert
- Meester, Josephina
- Wünnemann, Florian
- Gould, Russell A
- Zhurayev, Rustam
- Zerbino, Dmytro
- Mohamed, Salah A
- Mital, Seema
- Mertens, Luc
- Björck, Hanna M
- Franco-Cereceda, Anders
- McCallion, Andrew S
- Van Laer, Lut
- Verhagen, Judith M A
- van de Laar, Ingrid M B H
- Wessels, Marja W
- Messas, Emmanuel
- Goudot, Guillaume
- Nemcikova, Michaela
- Krebsova, Alice
- Kempers, Marlies
- Salemink, Simone
- Duijnhouwer, Toon
- Jeunemaitre, Xavier
- Albuisson, Juliette
- Eriksson, Per
- Andelfinger, Gregor
- Dietz, Harry C
- Verstraeten, Aline
- Loeys, Bart L
Publication details: Frontiers in physiology 2017
In:
Frontiers in physiology vol. 8
Availability: No items available.
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