32 results on '"SPRECHER, Eli"'
Search Results
2. Ichthyosis
3. Improving Hospital Outpatient Clinics Appointment Schedules by Prediction Models
4. The role of models in the covid-19 pandemic
5. Machine learning approaches to predicting no-shows in pediatric medical appointment
6. Up-regulation of ST18 in pemphigus vulgaris drives a self-amplifying p53-dependent pathomechanism resulting in decreased desmoglein 3 expression
7. Mucous membrane pemphigoid–otorhinolaryngological manifestations: a retrospective cohort study
8. Early intervention with pulse dye and CO2 ablative fractional lasers to improve cutaneous scarring post-lumpectomy: a randomized controlled trial on the impact of intervention on final cosmesis
9. Understanding unspecific complaints through genetics
10. Stabilizing mutations of KLHL24 ubiquitin ligase cause loss of keratin 14 and human skin fragility
11. The role of P-cadherin in skin biology and skin pathology: lessons from the hair follicle
12. Inherited desmosomal disorders
13. Clinical considerations and key issues in the management of patients with Erdheim-Chester Disease: a seven case series
14. Desmoglein 1 deficiency results in severe dermatitis, multiple allergies and metabolic wasting
15. Inflammatory peeling skin syndrome caused a novel mutation in CDSN
16. Novel mutations in GALNT3 causing hyperphosphatemic familial tumoral calcinosis
17. A systematic review of US state environmental legislation and regulation with regards to the prevention of neurodevelopmental disabilities and asthma
18. Distribution of TPMT risk alleles for thioupurine toxicity in the Israeli population
19. A large duplication in LIPH underlies autosomal recessive hypotrichosis simplex in four Middle Eastern families
20. A novel mutation in RASA1 causes capillary malformation and limb enlargement
21. Disentangling the roots of inherited hair disorders
22. Rapid detection of homozygous mutations in congenital recessive ichthyosis
23. The hyper-IgE syndrome is not caused by a microdeletion syndrome
24. Tumoral calcinosis: New insights for the rheumatologist into a familial crystal deposition disease
25. Identification of mutations in the human hairless gene in two new families with congenital atrichia
26. Hyperphosphatemic familial tumoral calcinosis caused by a mutation in GALNT3 in a European kindred
27. A novel homozygous missense mutation in FGF23 causes Familial Tumoral Calcinosis associated with disseminated visceral calcification
28. Identification of a recurrent mutation in GALNT3 demonstrates that hyperostosis-hyperphosphatemia syndrome and familial tumoral calcinosis are allelic disorders
29. Identification of a recurrent mutation in GALNT3 demonstrates that hyperostosis-hyperphosphatemia syndrome and familial tumoral calcinosis are allelic disorders
30. Mono-nucleotide repeats (MNRs): a neglected polymorphism for generating high density genetic maps in silico
31. Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis
32. Hypotrichosis with juvenile macular dystrophy is caused by a mutation in CDH3, encoding P-cadherin
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