S. Woerner

发表

Mutation-dependent recessive inheritance of NPHS2-associated steroid-resistant nephrotic syndrome

K. Tory, G. Mollet, O. Gribouval, 2014, Nature Genetics.

The Bowen-Conradi syndrome -- a highly lethal autosomal recessive syndrome of microcephaly, micrognathia, low birth weight, and joint deformities.

A. Hunter, R. Haslam, R. Lowry, 1979, American journal of medical genetics.

Factors leading to delay in the diagnosis and affecting survival of children with head and neck rhabdomyosarcoma.

C. Pratt, A. Mauer, H. O. Hustu, 1978, Pediatrics.

LMX1B mutations cause hereditary FSGS without extrarenal involvement.

J. Szustakowski, B. Linghu, E. Oakeley, 2013, Journal of the American Society of Nephrology : JASN.

Diabetes insipidus and hydronephrosis.

S. Shapiro, J. Palmer, S. Woerner, 1978, The Journal of urology.

ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption.

A. Paterson, H. Prokisch, S. Levy, 2013, The Journal of clinical investigation.

A homozygous missense mutation in the ciliary gene TTC21B causes familial FSGS.

G. Mollet, O. Gribouval, F. Silbermann, 2014, Journal of the American Society of Nephrology : JASN.

Intracranial hemorrhage in children with idiopathic thrombocytopenic purpura.

C. Abildgaard, B. N. French, S. Woerner, 1981, Pediatrics.

Rubinstein-Taybi syndrome and nasopharyngeal rhabdomyosarcoma.

R. Sobel, S. Woerner, 1981, The Journal of pediatrics.

Brain Phenotype of Transgenic Mice Overexpressing Cystathionine β-Synthase

J. Billard, J. Bizot, J. Delabar, 2012, PloS one.

Olfactory neuroblastoma (esthesioneuroblastoma) in a 2-year-old boy.

J. Lazerson, R. Munn, S. Woerner, 1986, Pediatric hematology and oncology.

Subcellular localization of SREBP1 depends on its interaction with the C-terminal region of wild-type and disease related A-type lamins.

B. Buendia, P. Roussel, S. Zinn-Justin, 2011, Experimental cell research.

Psychogenic polydipsia with hydronephrosis in an infant.

S. Shapiro, S. Woerner, R. Adelman, 1980, Pediatrics.

ADCK 4 mutations promote steroid-resistant nephrotic syndrome through CoQ 10 biosynthesis disruption

A. Paterson, H. Prokisch, S. Levy, 2018 .