Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

193 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Congenital disorder of glycosylphosphatidylinositol (GPI)-anchor biosynthesis--The phenotype of two patients with novel mutations in the PIGN and PGAP2 genes.
Jezela-Stanek A, Ciara E, Piekutowska-Abramczuk D, Trubicka J, Jurkiewicz E, Rokicki D, Mierzewska H, Spychalska J, Uhrynowska M, Szwarc-Bronikowska M, Buda P, Said AR, Jamroz E, Rydzanicz M, Płoski R, Krajewska-Walasek M, Pronicka E. Jezela-Stanek A, et al. Among authors: rydzanicz m. Eur J Paediatr Neurol. 2016 May;20(3):462-73. doi: 10.1016/j.ejpn.2016.01.007. Epub 2016 Feb 4. Eur J Paediatr Neurol. 2016. PMID: 26879448
Malan syndrome (Sotos syndrome 2) in two patients with 19p13.2 deletion encompassing NFIX gene and novel NFIX sequence variant.
Jezela-Stanek A, Kucharczyk M, Falana K, Jurkiewicz D, Mlynek M, Wicher D, Rydzanicz M, Kugaudo M, Cieslikowska A, Ciara E, Ploski R, Krajewska-Walasek M. Jezela-Stanek A, et al. Among authors: rydzanicz m. Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2016 Mar;160(1):161-7. doi: 10.5507/bp.2016.006. Epub 2016 Feb 29. Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2016. PMID: 26927468 Free article. Review.
Spondyloepimetaphyseal dysplasia with neurodegeneration associated with AIFM1 mutation - a novel phenotype of the mitochondrial disease.
Mierzewska H, Rydzanicz M, Biegański T, Kosinska J, Mierzewska-Schmidt M, Ługowska A, Pollak A, Stawiński P, Walczak A, Kędra A, Obersztyn E, Szczepanik E, Płoski R. Mierzewska H, et al. Among authors: rydzanicz m. Clin Genet. 2017 Jan;91(1):30-37. doi: 10.1111/cge.12792. Epub 2016 Jun 2. Clin Genet. 2017. PMID: 27102849
New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre.
Pronicka E, Piekutowska-Abramczuk D, Ciara E, Trubicka J, Rokicki D, Karkucińska-Więckowska A, Pajdowska M, Jurkiewicz E, Halat P, Kosińska J, Pollak A, Rydzanicz M, Stawinski P, Pronicki M, Krajewska-Walasek M, Płoski R. Pronicka E, et al. Among authors: rydzanicz m. J Transl Med. 2016 Jun 12;14(1):174. doi: 10.1186/s12967-016-0930-9. J Transl Med. 2016. PMID: 27290639 Free PMC article.
Biallelic Mutations of VAC14 in Pediatric-Onset Neurological Disease.
Lenk GM, Szymanska K, Debska-Vielhaber G, Rydzanicz M, Walczak A, Bekiesinska-Figatowska M, Vielhaber S, Hallmann K, Stawinski P, Buehring S, Hsu DA, Kunz WS, Meisler MH, Ploski R. Lenk GM, et al. Among authors: rydzanicz m. Am J Hum Genet. 2016 Jul 7;99(1):188-94. doi: 10.1016/j.ajhg.2016.05.008. Epub 2016 Jun 9. Am J Hum Genet. 2016. PMID: 27292112 Free PMC article.
Novel and De Novo Mutations Extend Association of POU3F4 with Distinct Clinical and Radiological Phenotype of Hearing Loss.
Pollak A, Lechowicz U, Kędra A, Stawiński P, Rydzanicz M, Furmanek M, Brzozowska M, Mrówka M, Skarżyński H, Skarżyński PH, Ołdak M, Płoski R. Pollak A, et al. Among authors: rydzanicz m. PLoS One. 2016 Dec 12;11(12):e0166618. doi: 10.1371/journal.pone.0166618. eCollection 2016. PLoS One. 2016. PMID: 27941975 Free PMC article.
Bilateral striatal necrosis caused by ADAR mutations in two siblings with dystonia and freckles-like skin changes that should be differentiated from Leigh syndrome.
Piekutowska-Abramczuk D, Mierzewska H, Bekiesińska-Figatowska M, Ciara E, Trubicka J, Pronicki M, Rokicki D, Rydzanicz M, Płoski R, Pronicka E. Piekutowska-Abramczuk D, et al. Among authors: rydzanicz m. Folia Neuropathol. 2016;54(4):405-409. doi: 10.5114/fn.2016.64819. Folia Neuropathol. 2016. PMID: 28139822 Free article.
193 results