Anna H. Hakonen

Mosaic variegated aneuploidy as a novel feature in patients with Mulibrey nanism and TRIM37 variants

Anna H. Hakonen, Susann Karlberg, K. Kiiski, Marita Lipsanen‐Nyman et autres

fi, no (code pays fourni par la source)

Optical genome mapping identifies a balanced inversion disrupting DMD in a patient with Duchenne muscular dystrophy

Tuuni Turtinen, Pirjo Isohanni, Anna‐Kaisa Anttonen, Leena Huhti et autres

fi (code pays fourni par la source)

Homozygous FANCM Variant c.5101C>T p.(Gln1701*) in a Patient With Early Onset Breast Cancer, Chemotherapy Toxicity, and Chromosome Fragility: A Case Report

Sonja Sulkava, Anna H. Hakonen, Rikke Christensen, Minna Pöyhönen et autres

fi, dk, it (code pays fourni par la source)

Genome sequencing reveals CCDC88A variants in malformations of cortical development and immune dysfunction

Johanna Lehtonen, Anna H. Hakonen, Antti Hassinen, Sanne Iversen Lurås et autres

no, fi (code pays fourni par la source)

Homozygous FANCM variant c.5101C>T p.(Gln1701*) in a patient with early onset breast cancer, chemotherapy toxicity, and chromosome fragility

Sonja Sulkava, Anna H. Hakonen, Minna Pöyhönen, Heli Nevanlinna

fi (code pays fourni par la source)

Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome

Dmitrijs Rots, Arianne Bouman, Ayumi Yamada, Michael A. Levy et autres

nl, lv, pl, jp, ca, de, gb, es, us, be, it, fr, tw, fi, au, tr, il (code pays fourni par la source)

Homozygous FANCM variant c.5101C>T p.(Gln1701*) in a patient with early onset breast cancer, chemotherapy toxicity, and chromosome fragility

Sonja Sulkava, Anna H. Hakonen, Minna Pöyhönen, Heli Nevanlinna

fi (code pays fourni par la source)

Biallelic hexokinase 1 ( HK1 ) variants causative of non‐spherocytic haemolytic anaemia: A case series with emphasis on the HK1 promoter variant and literature review

Elli‐Maija Ukonmaanaho, Silvia Dell'Anna, Anna H. Hakonen, Ulla Wartiovaara‐Kautto et autres

fi, it, nl (code pays fourni par la source)

Haplotype information of large neuromuscular disease genes provided by linked-read sequencing has a potential to increase diagnostic yield

Johanna Lehtonen, Anna-Maija Sulonen, Henrikki Almusa, Vilma‐Lotta Lehtokari et autres

fi, no, au (code pays fourni par la source)

Adding to the evidence of gene‐disease association of RAP1B and syndromic thrombocytopenia

Luba M. Pardo, Ruxandra Aanicai, Emir Zonic, Anna H. Hakonen et autres

de, fi (code pays fourni par la source)

Author response for "Adding to the evidence of gene‐disease association of RAP1B and syndromic thrombocytopenia"

Luba M. Pardo, Ruxandra Aanicai, Emir Zonic, Anna H. Hakonen et autres

COL4A1 and COL4A2 Duplication Causes Cerebral Small Vessel Disease With Recurrent Early Onset Ischemic Strokes

Liina Kuuluvainen, Saana Mönkäre, Hannaleena Kokkonen, Fanghui Zhao et autres

fi (code pays fourni par la source)