Pages that link to "Q57756245"

The following pages link to Jacek Zaremba (Q57756245):

Displaying 50 items.

• Mutations in the Na+/K+ -ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism (Q24299614) (← links)
• The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 gene (Q28286980) (← links)
• An unusual pedigree with microcornea-cataract syndrome. (Q33682635) (← links)
• EFNS Task Force on Molecular Diagnosis of Neurologic Disorders: guidelines for the molecular diagnosis of inherited neurologic diseases. First of two parts (Q34291485) (← links)
• Polymorphism of trinucleotide repeats in non-translated regions of SCA8 and SCA12 genes: allele distribution in a Polish control group. (Q34298412) (← links)
• EFNS Task Force on Molecular Diagnosis of Neurologic Disorders: guidelines for the molecular diagnosis of inherited neurologic diseases. Second of two parts. (Q34368117) (← links)
• Tuberous sclerosis: a clinical and genetical investigation (Q34705023) (← links)
• (Q36684381) (redirect page) (← links)
• No Evidence for Association of SCO2 Heterozygosity with High-Grade Myopia or Other Diseases with Possible Mitochondrial Dysfunction (Q36894743) (← links)
• High relative frequency of SCA1 in Poland reflecting a potential founder effect. (Q37116529) (← links)
• Jadassohn's naevus phakomatosis: 2. A study based on a review of thirty-seven cases (Q40239866) (← links)
• A rare subclinical or mild type of Becker muscular dystrophy caused by a single exon 48 deletion of the dystrophin gene (Q41010730) (← links)
• SCA8 repeat expansion coexists with SCA1--not only with SCA6. (Q42928190) (← links)
• The occurrence of spinocerebellar ataxias caused by dynamic mutations in Polish patients. (Q42972081) (← links)
• Screening for premutation in the FMR1 gene in male patients suspected of spinocerebellar ataxia (Q43551427) (← links)
• The natural history of SCO2 deficiency in 36 Polish children confirmed the genotype-phenotype correlation (Q43554914) (← links)
• Clinical and genetic study of juvenile form of Huntington's disease (Q44015694) (← links)
• Searching for mutation in the JPH3, ATN1 and TBP genes in Polish patients suspected of Huntington's disease and without mutation in the IT15 gene. (Q45290261) (← links)
• Hereditary form of prion disease in Poland. (Q45291386) (← links)
• The S18Y polymorphism in the UCHL1 gene is a genetic modifier in Huntington's disease (Q45299526) (← links)
• Genetic analysis of candidate genes modifying the age-at-onset in Huntington's disease (Q45301888) (← links)
• Spinocerebellar ataxias type 1 and 2: comparison of clinical, electrophysiological and magnetic resonance evaluation (Q46647336) (← links)
• Two Distinct Deletions in theIDSGene and the GeneW: A Novel Type of Mutation Associated with the Hunter Syndrome (Q48047254) (← links)
• Rapid-onset dystonia-parkinsonism: a fourth family consistent with linkage to chromosome 19q13. (Q48171044) (← links)
• Malformations of the brain in two fetuses with a compound heterozygosity for two PAX6 mutations (Q48353838) (← links)
• Frontotemporal lobar degeneration with MAPT mutation in an Italian-Polish family. A case report. (Q48382157) (← links)
• Familial occurrence of FXTAS caused by premutation in the FMR1 gene (Q50261916) (← links)
• A phenotypic-genetic study of a group of Polish patients with spinal and bulbar muscular atrophy. (Q50278416) (← links)
• Two mutations in one dystrophin gene. (Q51014884) (← links)
• MLPA based detection of mutations in the dystrophin gene of 180 Polish families with Duchenne/Becker muscular dystrophy. (Q51070676) (← links)
• A molecular and cytogenetic investigation of FMR1 gene premutations in Polish patients with primary ovarian insufficiency. (Q51817095) (← links)
• Psychological and sociological investigation of XYY prisoners. (Q52123991) (← links)
• Two neoplasms rich in small lymphocytes, B1B2 thymoma and small lymphocytic lymphoma, intermingled in one tumor mass. A case report. (Q52865197) (← links)
• Application of a rapid non-invasive technique in the molecular diagnosis of spinal muscular atrophy (SMA). (Q53273909) (← links)
• [A study on the occurrence of the deletion 22q11.2 in patients affected with a psychiatric disease]. (Q53544113) (← links)
• Screening for the hereditary spastic paraplaegias SPG4 and SPG3A with the multiplex ligation-dependent probe amplification technique in a large population of affected individuals. (Q54332195) (← links)
• Anna Sułek-Piątkowska (Q59682623) (← links)
• Genetic counseling in Robertsonian translocations der(13;14): Frequencies of reproductive outcomes and infertility in 101 pedigrees (Q60017984) (← links)
• Familial occurrence of the LEOPARD syndrome. (Q60559636) (← links)
• Clinical and genetic characteristics of late-onset Huntington's disease (Q62844764) (← links)
• Next-generation sequencing study reveals the broader variant spectrum of hereditary spastic paraplegia and related phenotypes (Q64254880) (← links)
• Prenatal diagnosis of Sanfilippo disease type C using a simple fluorometric enzyme assay. (Q64899727) (← links)
• Chronic form of childhood spinal muscular atrophy. Are the problems of its genetics really solved? (Q66973798) (← links)
• Prenatal diagnosis of Sanfilippo disease type B (Q70479976) (← links)
• Ring chromosome 18 in a mentally retarded boy (Q71680203) (← links)
• [Carrier detection in Duchenne/Becker muscular dystrophy in the families in which the DNA of the affected person is not available] (Q79209874) (← links)
• [The use of non-typical materials as a source of DNA in post-mortem diagnosis of spinal muscular atrophy] (Q79835436) (← links)
• Unaffected patients with a homozygous absence of the SMN1 gene (Q80863125) (← links)
• [Genetic amniocentesis in the II Department of Obstetrics and Gynecology of the Medical University of Warsaw] (Q80939700) (← links)
• [Genetic amniocentesis--characteristic of patients, indications, outcomes, complications] (Q80987295) (← links)