Z. Krūmiņa

发表

Association of Variants in the CP, ATOX1 and COMMD1 Genes with Wilson Disease Symptoms in Latvia

A. Zarina, I. Tolmane, Z. Krūmiņa, 2019, Balkan journal of medical genetics : BJMG.

Novel FOXG1 mutations associated with the congenital variant of Rett syndrome

J. Armstrong, A. Roche, J. Nectoux, 2009, Journal of Medical Genetics.

Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness

J. Schuurs-Hoeijmakers, J. Veltman, W. Kloosterman, 2012, Nature Genetics.

From clinical and biochemical to molecular genetic diagnosis of Wilson disease in Latvia

A. Krūmiņa, A. Zarina, Z. Krūmiņa, 2008, Russian Journal of Genetics.

Pathogenic APC Variants in Latvian Familial Adenomatous Polyposis Patients

Z. Krūmiņa, J. Gardovskis, Andris Gardovskis, 2019, Medicina.

Overview of Neuromuscular Disorder Molecular Diagnostic Experience for the Population of Latvia

Z. Krūmiņa, L. Gailīte, B. Lāce, 2022, Neurology: Genetics.

Eyes on MEGDEL: Distinctive Basal Ganglia Involvement in Dystonia Deafness Syndrome

L. de Meirleir, R. Wevers, S. Wortmann, 2015, Neuropediatrics.

Mucopolysaccharidosis type II in females and response to enzyme replacement therapy

Z. Krūmiņa, A. Tylki-Szymańska, A. Kloska, 2012, American journal of medical genetics. Part A.

Palaeopathological Evidence of Infectious Disease in a Skeletal Population from Late Medieval Riga, Latvia (15Th-17Th Centuries AD)

Z. Krūmiņa, G. Gerhards, E. Petersone-Gordina, 2017 .

Descemet Membrane Endothelial Keratoplasty in Pseudophakic Bullous Keratopathy: Outcomes and Evidence-Based Suggestions

Z. Krūmiņa, R. Erts, D. Borroni, 2018 .

Importance of Axial Length and Functional Corneal Endothelial Cells in Descemet Membrane Endothelial Keratoplasty.

Z. Krūmiņa, Mohit Parekh, D. Borroni, 2017, Cornea.

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.

I. Krantz, H. Hakonarson, E. Roeder, 2014, Human molecular genetics.

Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases.

J. Rosenfeld, S. Ellard, F. Alkuraya, 2019, American journal of human genetics.

Fragile X Syndrome in Mentally Retarded Patients from Latvia

Z. Krūmiņa, B. Lāce, N. Proņina, 2009 .

Progressive deafness–dystonia due to SERAC1 mutations: A study of 67 cases

Robert W. Taylor, W. Chung, H. Prokisch, 2017, Annals of neurology.

Solar retinopathy: a new setting of red, green, and blue channels

Z. Krūmiņa, V. Romano, Mohit Parekh, 2020, European journal of ophthalmology.

Complete mtDNA sequencing reveals mutations m.9185T>C and m.13513G>A in three patients with Leigh syndrome

Z. Krūmiņa, L. Pliss, Evelina Dagytė, 2018, Mitochondrial DNA. Part A, DNA mapping, sequencing, and analysis.

Hypoxanthine-guanine phosphoribosylotransferase deficiency—The spectrum of Polish mutations

Z. Krūmiņa, A. Tylki-Szymańska, E. Pronicka, 2008, Journal of Inherited Metabolic Disease.

The fragile X syndrome: 13 years of experience

Z. Krūmiņa, B. Lāce, Z. Daneberga, 2011 .