171 results on '"Lacoste, Caroline"'
Search Results
2. The EPIGENE network: A French initiative to harmonize and improve the nationwide diagnosis of monogenic epilepsies
3. Novel partial loss-of-function variants in the tyrosyl-tRNA synthetase 1 (YARS1) gene involved in multisystem disease
4. IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients
5. Missense mutation of TTC7A mimicking tricho-hepato-enteric (SD/THE) syndrome in a patient with very-early onset inflammatory bowel disease
6. Loss-of-Function Mutations in UNC45A Cause a Syndrome Associating Cholestasis, Diarrhea, Impaired Hearing, and Bone Fragility
7. A mutation in the Gardos channel is associated with hereditary xerocytosis
8. A recurrent KCNQ2 pore mutation causing early onset epileptic encephalopathy has a moderate effect on M current but alters subcellular localization of Kv7 channels
9. Manifestations dermatologiques des gammapathies monoclonales : apport de l’histopathologie cutanée
10. Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients
11. Inter-media Concept-Based Medical Image Indexing and Retrieval with UMLS at IPAL
12. A Semantic Fusion Approach Between Medical Images and Reports Using UMLS
13. Molecular and clinical description of patients with GABA A receptor gene variants ( GABRA1 , GABRB2 , GABRB3 , GABRG2 ): a cohort study, review of literature, and genotype‐phenotype correlations
14. Coverage analysis of lists of genes involved in heterogeneous genetic diseases following benchtop exome sequencing using the ion proton
15. A Kv7.2 mutation associated with early onset epileptic encephalopathy with suppression-burst enhances Kv7/M channel activity
16. Unsupervised line network extraction in remote sensing using a polyline process
17. Impact de la pandémie de COVID-19 sur la sévérité des mélanomes cutanés primitifs, étude multicentrique rétrospective
18. Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 cases
19. Variable clinical expression in patients with mosaicism for KCNQ2 mutations
20. Incidence of ATRX mutations in myelodysplastic syndromes, the value of microcytosis
21. Molecular and clinical descriptions of patients with GABAA receptor gene variants (GABRA1, GABRB2, GABRB3, GABRG2): A cohort study, review of literature, and genotype–phenotype correlation.
22. Medical-image retrieval based on knowledge-assisted text and image indexing
23. MAU-8 is a Phosducin-like Protein required for G protein signaling in C. elegans
24. Point processes for unsupervised line network extraction in remote sensing
25. A Novel Mutation in the PORCN Gene Underlying a Case of Almost Unilateral Focal Dermal Hypoplasia
26. Inter-media Concept-Based Medical Image Indexing and Retrieval with UMLS at IPAL
27. A Semantic Fusion Approach Between Medical Images and Reports Using UMLS
28. Breast Actinomyces neuii Abscess Simulating Primary Malignancy: A Case Diagnosed by Fine-Needle Aspiration
29. Description Osteo-Oto-Hepato-Enteric (O2HE) syndrome, a new recessive autosomal syndrome secondary to loss of function mutations in the UNC45A gene
30. Clinical study of 19 patients with SCN8A‐related epilepsy: Two modes of onset regarding EEG and seizures
31. Phenylphenols, biphenols, bisphenol-A and 4- tert-octylphenol exhibit α and β estrogen activities and antiandrogen activity in reporter cell lines
32. IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients
33. Nivolumab-induced alopecia areata: A reversible factor of good prognosis?
34. Loss-of-Function Mutations inUNC45ACause a Syndrome Associating Cholestasis, Diarrhea, Impaired Hearing, and Bone Fragility
35. Hereditary stomatocytosis: advances in knowledge of forms with dehydrated red blood cells
36. Osteo-Oto-Hepato-Enteric Syndrome (O2HE) is caused by loss of function mutations inUNC45A
37. Is SCN8A-related epilepsy recognizable ? Description of 15 cases, focusing on the mode of onset.
38. Mutations of codon 2085 in the helicase domain of ATRX are recurrent and cause ATRX syndrome
39. Cas pour diagnostic : une cytoponction ganglionnaire d’aspect inhabituel
40. Proliferative Nodules vs Melanoma Arising in Giant Congenital Melanocytic Nevi During Childhood
41. Hereditary stomatocytosis: advances in understanding the pathogenesis of dehydrated forms
42. SKIV2L Mutations Cause Syndromic Diarrhea, or Trichohepatoenteric Syndrome
43. Une tumeur testiculaire rare
44. EXTRACTION OF HYDROGRAPHIC NETWORKS FROM SATELLITE IMAGES USING A HIERARCHICAL MODEL WITHIN A STOCHASTIC GEOMETRY FRAMEWORK
45. Extraction de réseaux linéiques à partir d'images satellitaires et aériennes par processus ponctuels marqués
46. UNSUPERVISED LINE NETWORK EXTRACTION FROM REMOTELY SENSED IMAGES BY POLYLINE PROCESS
47. Stomatocytoses héréditaires : des avancées dans la connaissance des formes avec globules rouges déshydratés.
48. Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2
49. A NewATRXMutation in a Patient With Acquiredα-Thalassemia Myelodysplastic Syndrome
50. Exclusion of EGFR, HRAS, DSP, JUP, CTNNB1, PLEC1, and EPPK1 as Functional Candidate Genes in 7 Families With Syndromic Diarrhoea
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