Item request has been placed!

Item request cannot be made.

Processing Request

Search Results

Display Settings

Results per page: 10

Sort By: Relevance

Your Filters

Collection : Hospices Civils De Lyon (Hcl)

Item request has been placed!

Item request cannot be made.

Processing Request

Academic Journal

Functional Assessment of a New PBX1 Variant in a 46,XY Fetus with Severe Syndromic Difference of Sexual Development through CRISPR-Cas9 Gene Editing

Authors : Mary, Laura; Leclerc, Delphine; Labalme, Audrey ...

Subjects: CRISPR-Cas9; DSD; RNA-seq

Source: ISSN: 2073-4425 ; Genes ; https://hal.science/hal-04016275 ; Genes, 2023, 14 (2), pp.273. ⟨10.3390/genes14020273⟩.

Read More Add to Saved list

Academic Journal

Characterization of autopsy findings including multivisceral glomeruloid vascular bodies in hereditary thrombotic thrombocytopenic purpura with two new variants in ADAMTS13 gene

Authors : Maragliano, Roberta; Perrot, Adélie; Loget, Philippe ...

Subjects: Platelet; Diabetes mellitus; Angiomatosis

Source: ISSN: 0945-6317.

Read More Add to Saved list

Academic Journal

Risk estimation of uniparental disomy of chromosome 14 or 15 in a fetus with a parent carrying a non‐homologous Robertsonian translocation. Should we still perform prenatal diagnosis?

Authors : Moradkhani, Kamran; Cuisset, Laurence; Boisseau, Pierre ...

Subjects: [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics; [SDV.MHEP.GEO]Life Sciences [q-bio]/Human health and pathology/Gynecology and obstetrics

Source: ISSN: 0197-3851.

Read More Add to Saved list

Academic Journal

Multicenter Retrospective Study of Vascular Infections and Endocarditis Caused by Campylobacter spp., France

Authors : Tinévez, Claire; Lehours, Philippe; Ranc, Anne-Gaëlle ...

Subjects: Campylobacter spp; bacteria; bacterial infections

Source: ISSN: 1080-6040.

Read More Add to Saved list

Academic Journal

PHGDH-related microcephalic dwarfism in two fetuses: Expanding the phenotypical spectrum of L-serine biosynthesis defect

Authors : Cuinat, Silvestre; Quélin, Chloé; Pasquier, Laurent ...

Subjects: Serine biosynthesis defect Neu Laxova syndrome Microcephalic dwarfism Fetus PHGDH; [SDV]Life Sciences [q-bio]

Source: ISSN: 1769-7212 ; European Journal of Medical Genetics ; https://hal.science/hal-04801915 ; European Journal of Medical Genetics, 2023, 66 (11), pp.104852. ⟨10.1016/j.ejmg.2023.104852⟩.

Read More Add to Saved list

Academic Journal

Rationale and design of ePPOP-ID: a multicenter randomized controlled trial using an electronic-personalized program for obesity in pregnancy to improve delivery.

Authors : Deruelle, Philippe; Lelorain, Sophie; Deghilage, Sylvie ...

Subjects: Obesity; Pregnancy; Cesarean delivery

Source: ISSN: 1471-2393 ; BMC Pregnancy and Childbirth ; https://hal.univ-lille.fr/hal-04469146 ; BMC Pregnancy and Childbirth, 2020, BMC Pregnancy and Childbirth, 20 (1), pp.602.

Read More Add to Saved list

Academic Journal

Bone microarchitecture in human foetuses

Authors : Peyrin, F.; Boivin, G.; Braillon, P. ...

Subjects: bone microarchitecture; three-dimensional imaging; development

Source: Clinical Cases in Mineral and Bone Metabolism ; https://hal.science/hal-00443393 ; Clinical Cases in Mineral and Bone Metabolism, 2005, 2 (2), pp.150-157

Read More Add to Saved list

Academic Journal

G1 Phase Regulation, Area-Specific Cell Cycle Control, and Cytoarchitectonics in the Primate Cortex

Authors : Lukaszewicz, Agnès; Savatier, Pierre; Cortay, Véronique ...

Subjects: cell cycle/physiology; cerebral cortex/cytology; cerebral cortex/embryology

Source: ISSN: 0896-6273 ; Neuron ; https://hal.science/hal-00077619 ; Neuron, 2005, 47 (3), pp.353-364. ⟨10.1016/j.neuron.2005.06.032⟩.

Read More Add to Saved list

Academic Journal

XRCC4-related microcephalic primordial dwarfism: description of a clinical series of 7 cases, phenotype expansion and new diagnostic approaches

Authors : Cuinat, Silvestre; Chatron, Nicolas; Petit, Florence ...

Subjects: [SDV]Life Sciences [q-bio]

Source: ISSN: 1018-4813.

Read More Add to Saved list

Academic Journal

Pregnancy Among Women Receiving Chronic Dialysis in France (2006–2020)

Authors : Baouche, Hayet; Couchoud, Cécile; Boulanger, Henri ...

Subjects: chronic kidney failure; pregnancy; pregnancy complications

Source: ISSN: 2468-0249 ; Kidney International Reports ; https://hal.science/hal-05026632 ; Kidney International Reports, 2024, 9 (8), pp.2432-2442. ⟨10.1016/j.ekir.2024.05.008⟩.

Read More Add to Saved list