Michel Goossens
Publications by Year
Research Areas
Cystic Fibrosis Research Advances, Hemoglobinopathies and Related Disorders, Growth Hormone and Insulin-like Growth Factors, Congenital gastrointestinal and neural anomalies, Iron Metabolism and Disorders
Most-Cited Works
- → SOX10 mutations in patients with Waardenburg-Hirschsprung disease(1998)818 cited
- → Review and update of mutations causing Waardenburg syndrome(2010)601 cited
- → Loss-of-Function Mutations in a Human Gene Related to Chlamydomonas reinhardtii Dynein IC78 Result in Primary Ciliary Dyskinesia(1999)393 cited
- → Mutations in LHX3 result in a new syndrome revealed by combined pituitary hormone deficiency(2000)366 cited
- → Hepatosplenic T-cell lymphoma: sinusal/sinusoidal localization of malignant cells expressing the T-cell receptor gamma delta(1990)317 cited
- → Molecular characterization of cystic fibrosis: 16 Novel mutations identified by analysis of the whole cystic fibrosis conductance transmembrane regulator (CFTR) coding regions and splice site junctions(1992)267 cited
- → MEFV-Gene Analysis in Armenian Patients with Familial Mediterranean Fever: Diagnostic Value and Unfavorable Renal Prognosis of the M694V Homozygous Genotype—Genetic and Therapeutic Implications(1999)259 cited
- → Deletions at the SOX10 Gene Locus Cause Waardenburg Syndrome Types 2 and 4(2007)258 cited
- → Species-specific Alternative Splice Mimicry at the Growth Hormone Receptor Locus Revealed by the Lineage of Retroelements during Primate Evolution(2000)200 cited
- → Loss-of-Function Mutations in SOX10 Cause Kallmann Syndrome with Deafness(2013)197 cited