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European Journal of Medical Genetics

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Sắp xếp

IFT144 and mild retinitis pigmentosa in Mainzer-Saldino syndrome: A new association

European Journal of Medical Genetics· Tập 63 ·Trang 104073·2020

Santiago Montolío-Marzo, Jaume Català-Mora, Álvaro Madrid-Aris, Judith Armstrong, Jesús Díaz-Carcajosa, Elisa Carreras

15q26.1 microdeletion encompassing only CHD2 and RGMA in two adults with moderate intellectual disability, epilepsy and truncal obesity

European Journal of Medical Genetics· Tập 57 ·Trang 520-523·2014

Carolina Courage, Gunnar Houge, Sabina Gallati, Jack Schjelderup, Claudine Rieubland

Haplotype analysis of α-thalassemia chromosomes reveals heterogeneity and multiple founders in Ashkenazi Jews

European Journal of Medical Genetics· Tập 59 ·Trang 555-558·2016

Adir Shaulov, Dvora Filon, Deborah Rund

Novel TBX3 mutation data in families with Ulnar–Mammary syndrome indicate a genotype–phenotype relationship: mutations that do not disrupt the T-domain are associated with less severe limb defects

European Journal of Medical Genetics· Tập 49 ·Trang 151·2006

Platonova Natalia, Merlo Giorgio R., Odent Sylvie, Meneghini Vasco, Egeo Aliana

#Genotype–phenotype relationship #Limb malformation #Mutation #T-box #TBX3 #Ulnar–Mammary syndrome

Further evidence of affected females with a heterozygous variant in FGF13 causing X-linked developmental and epileptic encephalopathy 90

European Journal of Medical Genetics· Tập 65 ·Trang 104403·2022

Dhanya Lakshmi Narayanan, Purvi Majethia, Aroor Shrikiran, Shahyan Siddiqui, Ashwin Dalal, Anju Shukla

Novel DCC variants in congenital mirror movements and evaluation of disease-associated missense variants

European Journal of Medical Genetics· Tập 61 ·Trang 329-334·2018

Tatjana Bierhals, Georg Christoph Korenke, Martina Baethmann, Laura López Marín, Martin Staudt, Kerstin Kutsche

A de novo balanced translocation t(7;12)(p21.2;p12.3) in a patient with Saethre–Chotzen-like phenotype downregulates TWIST and an osteoclastic protein-tyrosine phosphatase, PTP-oc

European Journal of Medical Genetics· Tập 54 ·Trang e478-e483·2011

Patrizia De Marco, Alessandro Raso, Silvana Beri, Stefania Gimelli, Elisa Merello, Samantha Mascelli, Maurizia Baldi, Ave Maria Baffico, Marco Pavanello, Armando Cama, Valeria Capra, Roberto Giorda, Giorgio Gimelli

Novel BRCA2 pathogenic genotype and breast cancer phenotype discordance in monozygotic triplets

European Journal of Medical Genetics· Tập 63 ·Trang 103771·2020

Neslihan Duzkale, Nilnur Eyerci, Berna Oksuzoglu, Taner Teker, Olcay Kandemir

Craniofacial bony defect with developmental abnormality of facial bones, dental malalignment and ectopic neural tissue in the internal auditory meati – A new syndrome?

European Journal of Medical Genetics· Tập 57 ·Trang 302-305·2014

G.C. Colleran, R. Hayes, G. Kearns, P. Kavanagh, E. Moylett, S.A. Lynch

DNA promoter methylation of CCM genes in human cerebral cavernous malformations: Importance of confirming MSP data through sequencing

European Journal of Medical Genetics· Tập 63 ·Trang 104090·2020

Dino Saban, Joel Larisch, Ann-Christin Nickel, Daniela Pierscianek, Philipp Dammann, Ulrich Sure, Yuan Zhu

Tổng số: 1,111