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Rahikkala, E. (Elisa)
69  Ergebnisse:
Personensuche X
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1

Detection of PTCH1 Copy-Number Variants in Mosaic Basal Cel..:

Roemen, Guido M. J. M. ; Theunissen, Tom E. J. ; Hoezen, Ward W. J....
Biomedicines.  12 (2024)  2 - p. 330 , 2024
Link: https://doi.org/10.3390/..
 
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2

Biallelic hexokinase 1 (HK1) variants causative of non‐sphe..:

Ukonmaanaho, Elli‐Maija ; Dell'Anna, Silvia ; Hakonen, Anna...
British Journal of Haematology.  204 (2024)  5 - p. 2040-2048 , 2024
Link: https://doi.org/10.1111/..
 
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3

Jansen de Vries syndrome:report of four new patients and re..:

Tuiskula, A. (Anna) ; Rahikkala, E. (Elisa) ; Kero, A. (Andreina).. , 2023
Link: http://urn.fi/urn:nbn:fi..
 
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4

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..
 
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5

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..
 
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6

A novel variant in SMG9 causes intellectual disability, con..:

Rahikkala, E. (Elisa) ; Urpa, L. (Lea) ; Ghimire, B. (Bishwa)... , 2022
Link: http://urn.fi/urn:nbn:fi..
 
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7

Psychiatric symptoms in Salla disease:

Aulanko, I. (Ida) ; Rahikkala, E. (Elisa) ; Moilanen, J. (Jukka) , 2022
Link: http://urn.fi/urn:nbn:fi..
 
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8

HIDEA syndrome is caused by biallelic, pathogenic, rare or ..:

Kraatari-Tiri, M. (Minna) ; Soikkonen, L. (Leila) ; Myllykoski, M. (Matti)... , 2022
Link: http://urn.fi/urn:nbn:fi..
 
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9

ATM c.7570G>C is a high-risk allele for breast cancer:

Kankuri-Tammilehto, M. (Minna) ; Tervasmäki, A. (Anna) ; Kraatari-Tiri, M. (Minna)... , 2022
Link: http://urn.fi/urn:nbn:fi..
 
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10

Cytosolic phosphoenolpyruvate carboxykinase deficiency:expa..:

Vieira, P. (Päivi) ; Nagy, I. I. (Irina I.) ; Rahikkala, E. (Elisa)...
info:eu-repo/semantics/altIdentifier/url/https://databases.lovd.nl/shared/genes/PCK1.  , 2022
Link: http://urn.fi/urn:nbn:fi..
 
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11

Clinical and genetic characteristics of Finnish patients wi..:

Kraatari-Tiri, M. (Minna) ; Haanpää, M. K. (Maria K.) ; Willberg, T. (Tytti)... , 2022
Link: http://urn.fi/urn:nbn:fi..
 
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12

Autosomal recessive nonsyndromic hearing impairment in two ..:

Bharadwaj, T. (Thashi) ; Schrauwen, I. (Isabelle) ; Acharya, A. (Anushree)... , 2022
Link: http://urn.fi/urn:nbn:fi..
 
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13

LBSL case series and DARS2 variant analysis in early severe..:

Stellingwerff, M. D. (Menno D.) ; Figuccia, S. (Sonia) ; Bellacchio, E. (Emanuele)... , 2021
Link: http://urn.fi/urn:nbn:fi..
 
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14

Epidemiological, clinical, and genetic characteristics of p..:

Knuutinen, O. A. (Oula A.) ; Oikarainen, J. H. (Jaakko H.) ; Suo-Palosaari, M. H. (Maria H.)... , 2021
Link: http://urn.fi/urn:nbn:fi..
 
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15

Loss of DIAPH1 causes SCBMS, combined immunodeficiency, and..:

Kaustio, M. (Meri) ; Nayebzadeh, N. (Naemeh) ; Hinttala, R. (Reetta)... , 2021
Link: http://urn.fi/urn:nbn:fi..
 
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