Aleksander Jamsheer

Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome

Saskia M. Maas, Adam Shaw, Hennie Bikker et al. · European Journal of Medical Genetics · 2015 · 120 citations · Full text

Life Sciences, Genetics, Molecular Genetics +5

Duplications of <i>BHLHA9</i> are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion

Eva Klopocki, Silke B. Lohan, Sandra C. Doelken et al. · Journal of Medical Genetics · 2011 · 93 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

A novel nonsense mutation in <i>CUL4B</i> gene in three brothers with X‐linked mental retardation syndrome

Magdalena Badura‐Stronka, Aleksander Jamsheer, Anna Materna‐Kiryluk et al. · Clinical Genetics · 2009 · 55 citations

Life Sciences, Genetics, Molecular Genetics +11

Noncoding copy-number variations are associated with congenital limb malformation

Ricarda Flöttmann, Bjørt K. Kragesteen, Sinje Geuer et al. · Genetics in Medicine · 2017 · 54 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Bilateral radial agenesis with absent thumbs, complex heart defect, short stature, and facial dysmorphism in a patient with pure distal microduplication of 5q35.2-5q35.3

Aleksander Jamsheer, Anna Sowińska‐Seidler, Dorota Simon et al. · BMC Medical Genetics · 2013 · 53 citations · Full text

Life Sciences, Genetics, Pediatrics +12