Results
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86.
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The molecular basis of canavan (aspartoacylase deficiency) disease in European non-Jewish patients. [electronic resource] by
- Shaag, A
- Anikster, Y
- Christensen, E
- Glustein, J Z
- Fois, A
- Michelakakis, H
- Nigro, F
- Pronicka, E
- Ribes, A
- Zabot, M T
Producer: 19951012
In:
American journal of human genetics vol. 57
Availability: No items available.
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87.
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Transferrin hypoglycosylation in hereditary fructose intolerance: using the clues and avoiding the pitfalls. [electronic resource] by
- Adamowicz, M
- Płoski, R
- Rokicki, D
- Morava, E
- Gizewska, M
- Mierzewska, H
- Pollak, A
- Lefeber, D J
- Wevers, R A
- Pronicka, E
Producer: 20070817
In:
Journal of inherited metabolic disease vol. 30
Availability: No items available.
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88.
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Molecular background of polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome in a Polish population: novel AIRE mutations and an estimate of disease prevalence. [electronic resource] by
- Stolarski, B
- Pronicka, E
- Korniszewski, L
- Pollak, A
- Kostrzewa, G
- Rowińska, E
- Włodarski, P
- Skórka, A
- Gremida, M
- Krajewski, P
- Ploski, R
Producer: 20061128
In:
Clinical genetics vol. 70
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89.
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90.
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91.
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Linkage disequilibrium analysis in young populations: pseudo-vitamin D-deficiency rickets and the founder effect in French Canadians. [electronic resource] by
- Labuda, M
- Labuda, D
- Korab-Laskowska, M
- Cole, D E
- Zietkiewicz, E
- Weissenbach, J
- Popowska, E
- Pronicka, E
- Root, A W
- Glorieux, F H
Producer: 19960925
In:
American journal of human genetics vol. 59
Availability: No items available.
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92.
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Molecular characterization of Polish patients with familial hypercholesterolemia: novel and recurrent LDLR mutations. [electronic resource] by
- Chmara, M
- Wasag, B
- Zuk, M
- Kubalska, J
- Wegrzyn, A
- Bednarska-Makaruk, M
- Pronicka, E
- Wehr, H
- Defesche, J C
- Rynkiewicz, A
- Limon, J
Producer: 20100518
In:
Journal of applied genetics vol. 51
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93.
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Sepiapterin reductase deficiency in a 2-year-old girl with incomplete response to treatment during short-term follow-up. [electronic resource] by
- Kusmierska, K
- Jansen, E E W
- Jakobs, C
- Szymanska, K
- Malunowicz, E
- Meilei, D
- Thony, B
- Blau, N
- Tryfon, J
- Rokicki, D
- Pronicka, E
- Sykut-Cegielska, J
Producer: 20130805
In:
Journal of inherited metabolic disease vol. 32 Suppl 1
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94.
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A de novo loss-of-function DYNC1H1 mutation in a patient with parkinsonian features and a favourable response to levodopa. [electronic resource] by
- Szczałuba, K
- Szymańska, K
- Rydzanicz, M
- Ciara, E
- Walczak, A
- Piekutowska-Abramczuk, D
- Kosińska, J
- Jacoszek, A
- Czerska, K
- Biernacka, A
- Laure-Kamionowska, M
- Gasperowicz, P
- Pronicka, E
- Płoski, R
Producer: 20190925
In:
Clinical genetics vol. 93
Availability: No items available.
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95.
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SURF1 missense mutations promote a mild Leigh phenotype. [electronic resource] by
- Piekutowska-Abramczuk, D
- Magner, M
- Popowska, E
- Pronicki, M
- Karczmarewicz, E
- Sykut-Cegielska, J
- Kmiec, T
- Jurkiewicz, E
- Szymanska-Debinska, T
- Bielecka, L
- Krajewska-Walasek, M
- Vesela, K
- Zeman, J
- Pronicka, E
Producer: 20091209
In:
Clinical genetics vol. 76
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96.
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Novel c.191C>G (p.Pro64Arg) MPV17 mutation identified in two pairs of unrelated Polish siblings with mitochondrial hepatoencephalopathy. [electronic resource] by
- Piekutowska-Abramczuk, D
- Pronicki, M
- Strawa, K
- Karkucińska-Więckowska, A
- Szymańska-Dębińska, T
- Fidziańska, A
- Więckowski, M R
- Jurkiewicz, D
- Ciara, E
- Jankowska, I
- Sykut-Cegielska, J
- Krajewska-Walasek, M
- Płoski, R
- Pronicka, E
Producer: 20141209
In:
Clinical genetics vol. 85
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97.
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Genomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type Ib (CDG-Ib). [electronic resource] by
- Schollen, E
- Dorland, L
- de Koning, T J
- Van Diggelen, O P
- Huijmans, J G
- Marquardt, T
- Babovic-Vuksanovic, D
- Patterson, M
- Imtiaz, F
- Winchester, B
- Adamowicz, M
- Pronicka, E
- Freeze, H
- Matthijs, G
Producer: 20001030
In:
Human mutation vol. 16
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98.
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Asymptomatic and late-onset ornithine transcarbamylase (OTC) deficiency in males of a five-generation family, caused by an A208T mutation. [electronic resource] by
- van Diggelen, O P
- Zaremba, J
- He, W
- Keulemans, J L
- Boer, A M
- Reuser, A J
- Ausems, M G
- Smeitink, J A
- Kowalczyk, J
- Pronicka, E
- Rokicki, D
- Tarnowska-Dziduszko, E
- Kneppers, A L
- Bakker, E
Producer: 19970325
In:
Clinical genetics vol. 50
Availability: No items available.
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99.
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A survey of the newborn populations in Belgium, Germany, Poland, Czech Republic, Hungary, Bulgaria, Spain, Turkey, and Japan for the G985 variant allele with haplotype analysis at the medium chain Acyl-CoA dehydrogenase gene locus: clinical and evolutionary consideration. [electronic resource] by
- Tanaka, K
- Gregersen, N
- Ribes, A
- Kim, J
- Kølvraa, S
- Winter, V
- Eiberg, H
- Martinez, G
- Deufel, T
- Leifert, B
- Santer, R
- François, B
- Pronicka, E
- László, A
- Kmoch, S
- Kremensky, I
- Kalaydjicva, L
- Ozalp, I
- Ito, M
Producer: 19970508
In:
Pediatric research vol. 41
Availability: No items available.
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100.
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Difficulties in recognition of pyruvate dehydrogenase complex deficiency on the basis of clinical and biochemical features. The role of next-generation sequencing. [electronic resource] by
- Ciara, E
- Rokicki, D
- Halat, P
- Karkucińska-Więckowska, A
- Piekutowska-Abramczuk, D
- Mayr, J
- Trubicka, J
- Szymańska-Dębińska, T
- Pronicki, M
- Pajdowska, M
- Dudzińska, M
- Giżewska, M
- Krajewska-Walasek, M
- Książyk, J
- Sperl, W
- Płoski, R
- Pronicka, E
Producer: 20160504
In:
Molecular genetics and metabolism reports vol. 7
Availability: No items available.
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