E-LIB Suche - Ergebnisse für: Muru, Kai

1

Bi-allelic loss-of-function variants in WBP4, encoding a sp..:

Engal, Eden ; Oja, Kaisa Teele ; Maroofian, Reza...
The American Journal of Human Genetics. 110 (2023) 12 - p. 2112-2119 , 2023

Link: https://doi.org/10.1016/..

2

The prevalence of congenital anomalies: nationwide study in..:

Süüden, Eva-Liina ; Muru, Kai ; Põder, Kelli.
The Journal of Maternal-Fetal & Neonatal Medicine. 36 (2023) 2 - p. , 2023

Link: https://doi.org/10.1080/..

3

AXIN2‐related oligodontia‐colorectal cancer syndrome with c..:

Roht, Laura ; Hyldebrandt, Hanne K. ; Stormorken, Astrid T....
Molecular Genetics & Genomic Medicine. 11 (2023) 6 - p. , 2023

Link: https://doi.org/10.1002/..

4

The prevalence of inherited metabolic disorders in Estonian..:

Tiivoja, Elis ; Reinson, Karit ; Muru, Kai...
JIMD Reports. 63 (2022) 6 - p. 604-613 , 2022

Link: https://doi.org/10.1002/..

5

A two‐year prospective study assessing the performance of f..:

Ridnõi, Konstantin ; Muru, Kai ; Keernik, Maria...
Molecular Genetics & Genomic Medicine. 9 (2021) 10 - p. , 2021

Link: https://doi.org/10.1002/..

6

Congenital disorder of glycosylation caused by starting sit..:

Linders, Peter T. A. ; Gerretsen, Eveline C. F. ; Ashikov, Angel...
Nature Communications. 12 (2021) 1 - p. , 2021

Link: https://doi.org/10.1038/..

7

The Birth Prevalence of Spinal Muscular Atrophy: A Populati..:

Sarv, Siiri ; Kahre, Tiina ; Vaidla, Eve...
Frontiers in Genetics. 12 (2021) - p. , 2021

Link: https://doi.org/10.3389/..

8

PEHO syndrome caused by compound heterozygote variants in Z..:

Õunap, Katrin ; Muru, Kai ; Õiglane-Shlik, Eve...
European Journal of Medical Genetics. 63 (2020) 2 - p. 103660 , 2020

Link: https://doi.org/10.1016/..

9

FLAD1‐associated multiple acyl‐CoA dehydrogenase deficiency..:

Muru, Kai ; Reinson, Karit ; Künnapas, Kadi...
Molecular Genetics & Genomic Medicine. 7 (2019) 9 - p. , 2019

Link: https://doi.org/10.1002/..

10

The evaluation of phenylalanine levels in Estonian phenylke..:

Lilleväli, Hardo ; Reinson, Karit ; Muru, Kai...
Molecular Genetics and Metabolism Reports. 19 (2019) - p. 100467 , 2019

Link: https://doi.org/10.1016/..

11

High incidence of low vitamin B12 levels in Estonian newbor..:

Reinson, Karit ; Künnapas, Kadi ; Kriisa, Annika...
Molecular Genetics and Metabolism Reports. 15 (2018) - p. 1-5 , 2018

Link: https://doi.org/10.1016/..

12

Leopard syndrome: a report of five cases from one family in..:

Begić, Fatima ; Tahirović, Husref ; Kardašević, Mediha..
European Journal of Pediatrics. 173 (2014) 6 - p. 819-822 , 2014

Link: https://doi.org/10.1007/..

13

Prospective experience with contingent screening strategy f..:

Muru, Kai ; Sitska, Mari ; Asser, Karin...
Journal of Community Genetics. 1 (2010) 3 - p. 133-138 , 2010

Link: https://doi.org/10.1007/..

14

LEOPARD syndrome with recurrent PTPN11 mutation Y279C and d..:

Kalev, Ingrid ; Muru, Kai ; Teek, Rita...
European Journal of Pediatrics. 169 (2009) 4 - p. 469-473 , 2009

Link: https://doi.org/10.1007/..

15

Psoriasis vulgaris in a male with partial deletion 18p:

Mikelsaar, Ruth V. ; Muru, Kai ; Kulla, Andres.
American Journal of Medical Genetics. 108 (2002) 3 - p. 252-253 , 2002

Link: https://doi.org/10.1002/..