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Häkli, Sanna
18
results:
Search for persons
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Format
Online (18)
Mediatypes
Articles (Online) (7)
OpenAccess-fulltext (11)
Sorted by: Relevance
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?
1
Diagnosing and Managing Velopharyngeal Insufficiency in Pat..:
Pitkanen, Veera V.
;
Geneid, Ahmed
;
Saarikko, Anne M.
..
Journal of Craniofacial Surgery. , 2023
Link:
https://doi.org/10.1097/..
?
2
Pathogenic REST variant causing Jones syndrome and a review..:
Rahikkala, Elisa
;
Julku, Johanna
;
Koskinen, Sari
...
European Journal of Human Genetics. 31 (2022) 4 - p. 469-473 , 2022
Link:
https://doi.org/10.1038/..
?
3
Clinical and Genetic Characteristics of Finnish Patients wi..:
Kraatari-Tiri, Minna
;
Haanpää, Maria K.
;
Willberg, Tytti
...
Journal of Clinical Medicine. 11 (2022) 7 - p. 1837 , 2022
Link:
https://doi.org/10.3390/..
?
4
A novel frameshift variant in CEP78 associated with nonsynd..:
Lähteenoja, Laura
;
Häkli, Sanna
;
Tuupanen, Sari
...
Ophthalmic Genetics. 43 (2022) 2 - p. 152-158 , 2022
Link:
https://doi.org/10.1080/..
?
5
Heterozygous SSBP1 start loss mutation co-segregates with h..:
Kullar, Peter J
;
Gomez-Duran, Aurora
;
Gammage, Payam A
...
Brain. 141 (2017) 1 - p. 55-62 , 2017
Link:
https://doi.org/10.1093/..
?
6
Mutations in the two ribosomal RNA genes in mitochondrial D..:
Häkli, Sanna
;
Luotonen, Mirja
;
Sorri, Martti
.
BMC Medical Genetics. 16 (2015) 1 - p. , 2015
Link:
https://doi.org/10.1186/..
?
7
Childhood hearing impairment in northern Finland, etiology ..:
Häkli, Sanna
;
Luotonen, Mirja
;
Bloigu, Risto
..
International Journal of Pediatric Otorhinolaryngology. 78 (2014) 11 - p. 1852-1856 , 2014
Link:
https://doi.org/10.1016/..
?
8
Clinical and Genetic Characteristics of Finnish Patients wi..:
Kraatari-Tiri, Minna
;
Haanpää, Maria K
;
Willberg, Tytti
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9000065/. , 2022
Link:
http://www.ncbi.nlm.nih...
?
9
Pathogenic REST variant causing Jones syndrome and a review..:
Rahikkala, Elisa
;
Julku, Johanna
;
Koskinen, Sari
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10133349/. , 2022
Link:
http://www.ncbi.nlm.nih...
?
10
Heterozygous SSBP1 start loss mutation co-segregates with h..:
Kullar, Peter J
;
Gomez-Duran, Aurora
;
Gammage, Payam A
...
http://eprints.gla.ac.uk/211768/1/211768.pdf. , 2018
Link:
http://eprints.gla.ac.uk..
?
11
Heterozygous SSBP1 start loss mutation co-segregates with h..:
Kullar, Peter J
;
Gomez-Duran, Aurora
;
Gammage, Payam A
...
https://www.repository.cam.ac.uk/handle/1810/275166. , 2018
Link:
https://www.repository.c..
?
12
Mutations in the two ribosomal RNA genes in mitochondrial D..:
Häkli, Sanna
;
Luotonen, Mirja
;
Sorri, Martti
.
http://www.biomedcentral.com/1471-2350/16/3. , 2015
Link:
http://www.biomedcentral..
?
13
Pathogenic REST variant causing Jones syndrome and a review..:
Rahikkala, E. (Elisa)
;
Julku, J. (Johanna)
;
Koskinen, S. (Sari)
... , 2023
Link:
http://urn.fi/urn:nbn:fi..
?
14
Clinical and Genetic Characteristics of Finnish Patients wi..:
Minna Kraatari-Tiri
;
Maria K. Haanpää
;
Tytti Willberg
...
Otolaryngology. , 2022
Link:
https://doi.org/10.3390/..
?
15
A novel frameshift variant in CEP78 associated with nonsynd..:
Lähteenoja, L. (Laura)
;
Häkli, S. (Sanna)
;
Tuupanen, S. (Sari)
... , 2022
Link:
http://urn.fi/urn:nbn:fi..
1-15
