Thomas Thelle

Aarskog–Scott syndrome: Clinical update and report of nine novel mutations of the <i>FGD1</i> gene

Alfredo Orrico, Lucia Galli, Laurence Faivre et al. · American Journal of Medical Genetics Part A · 2010 · 56 citations

Inverted tandem duplication of the short arm of chromosome 8: a non-random de novo structural aberration in man. Localization of the gene for glutathione reductase in subband 8p21.1.

Jensen Pk, Claudine Junien, Suzy Despoisse et al. · PubMed · 1982 · 31 citations

The Effect of Caffeine Compared with Theophylline in the Treatment of Idiopathic Apnea in Premature Infants

G Fuglsang, Kaspar René Nielsen, L. Kjeer Nielsen et al. · Acta Paediatrica · 1989 · 22 citations

Sleep, Premature Infants, Neonatology +8

Choroid plexus hyperplasia and chromosome 9p gains

Martin Faber Boxill, Naja Becher, Lone Sunde et al. · American Journal of Medical Genetics Part A · 2018 · 16 citations · Full text

Developmental Anomaly, Developmental Biology, Mendelian Disorder +12

Four novel <i>PDHA1</i> mutations in pyruvate dehydrogenase deficiency

H. Serap Kalkanoglu‐Sivri, Ali Dursun, Thomas Thelle et al. · Journal of Inherited Metabolic Disease · 2009 · 15 citations