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American Journal of Medical Genetics. Part A|May 26, 2018
MAP2K2 mutation as a cause of cardio-facio-cutaneous syndrome in an infant with a severe and fatal course of the diseaseMonika Gos, Robert Smigiel, Teresa Kaczan, et al.
Parkinsonism & Related Disorders|July 25, 2009
Low frequency of the PARK2 gene mutations in Polish patients with the early-onset form of Parkinson diseaseDariusz Koziorowski, Dorota Hoffman-Zacharska, Jarosław Sławek, et al.
Medycyna Wieku Rozwojowego|April 6, 2011
[Genetic risk markers of low bone mineral density in cystic fibrosis children]Aleksandra Norek, Dorota Sands, Agnieszka Sobczyńska-Tomaszewska, et al.
Orphanet Journal of Rare Diseases|May 25, 2021
The genetic basis of classical galactosaemia in Polish patientsAleksandra Jezela-Stanek, Anna Bauer, Katarzyna Wertheim-Tysarowska, et al.
American Journal of Medical Genetics. Part A|March 9, 2006
The ARX mutations: a frequent cause of X-linked mental retardationMagdalena Nawara, Krzysztof Szczaluba, Karine Poirier, et al.
The Journal of Reproductive Medicine|April 1, 2006
Molecular analysis of defects in the CFTR gene and AZF locus of the Y chromosome in male infertilityAgnieszka Sobczyńska-Tomaszewska, Daniel Bak, Jan Karol Wolski, et al.
Neurologia I Neurochirurgia Polska|July 20, 2015
From focal epilepsy to Dravet syndrome--Heterogeneity of the phenotype due to SCN1A mutations of the p.Arg1596 amino acid residue in the Nav1.1 subunitDorota Hoffman-Zacharska, Elżbieta Szczepanik, Iwona Terczynska, et al.
Medycyna Wieku Rozwojowego|April 29, 2005
[Prenatal diagnosis of spinal muscular atrophy (SMA) -- indications, restrictions, interpretation of results]Maria Jedrzejowska, Janusz Zimowski, Wojciech Wiszniewski, et al.
Developmental Period Medicine|March 10, 2016
CHRONIC PANCREATITIS IN A PATIENT WITH THE p.Asn34Ser HOMOZYGOUS SPINK1 MUTATION--OWN EXPERIENCEAgnieszka Magdalena Rygiel, Małgorzata Wojnicka-Stolarz, Katarzyna Niepokój, et al.
Journal of Applied Genetics|January 11, 2015
Phenotypic variability in gap junction syndromic skin disorders: experience from KID and Clouston syndromes' clinical diagnosticsAnna Kutkowska-Kaźmierczak, Katarzyna Niepokój, Katarzyna Wertheim-Tysarowska, et al.
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