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Mapping axon initial segment structure and function by multiplexed proximity biotinylation
Hamdan Hamdan
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Tomohiro Torii
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hal-02427822v1
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Selective ß-arrestin-dependent signalling by FSHR mutants
Guillaume Durand
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Vincent Piketty
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Domitille Heitzler
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International Conference of Gonadotropins & their Receptors, Jul 2008, Cheshunt, United Kingdom. n.p
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hal-02818628v1
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SOCS genes expression during physiological and perturbed implantation in bovine endometrium
Anais Vitorino Carvalho
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Pierrette P. Reinaud
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N. Forde
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G.D. Healey
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Caroline Eozenou
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hal-02633219v1
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Recent development of transcatheter closure of atrial septal defect and patent foramen ovale with occluders
Qin Tang
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Qin Su
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Journal of Biomedical Materials Research Part B: Applied Biomaterials, 2018, 106 (1), pp.433 - 443. ⟨10.1002/jbm.b.33831⟩
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hal-01674715v1
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De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene
Jean Chemin
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Karine Siquier-Pernet
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Michael Nicouleau
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hal-02017665v1
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Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations
Lance Rodan
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Rebecca Spillmann
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Harley Kurata
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hal-03519600v1
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PiT1/Slc20a1 is required for endoplasmic reticulum homeostasis, chondrocyte survival and skeletal development
Greig Couasnay
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Nina Bon
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Sophie Devignes
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Sophie Sourice
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inserm-01902342v1
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Child health, developmental plasticity, and epigenetic programming
Z. Z. Hochberg
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Robert Feil
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M. M. Constancia
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M. M. Fraga
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hal-01001422v1
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Disruption of NEUROD2 causes a neurodevelopmental syndrome with autistic features via cell-autonomous defects in forebrain glutamatergic neurons
Karen Runge
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Rémi Mathieu
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Stéphane Bugeon
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Sahra Lafi
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Corinne Beurrier
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hal-03328734v1
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The genome of the water strider Gerris buenoi reveals expansions of gene repertoires associated with adaptations to life on the water
David Armisen
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Rajendhran Rajakumar
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Markus Friedrich
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Joshua Benoit
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Hugh Robertson
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hal-02392026v1
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Ultrastructural analysis of the functional domains in FMRP using primary hippocampal mouse neurons.
Josien Levenga
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Ronald Am Buijsen
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Maria Rifé
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Hervé Moine
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David L. Nelson
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inserm-00420367v1
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Comprehensive analysis of a norovirus-associated gastroenteritis outbreak, from the environment to the consumer.
Françoise S Le Guyader
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Joanna Krol
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Katia Ambert-Balay
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Nathalie Ruvoen-Clouet
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Bénédicte Desaubliaux
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hal-00474843v1
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Quantifying the heritability of glioma using genome-wide complex trait analysis
Ben Kinnersley
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Jonathan S. Mitchell
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Konstantinos Gousias
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Johannes Schramm
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Ahmed Idbaih
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hal-01271785v1
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Mutations in the KIF21B kinesin gene cause neurodevelopmental disorders through imbalanced canonical motor activity
Laure Asselin
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José Rivera Alvarez
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Solveig Heide
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Camille Bonnet
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Peggy Tilly
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hal-03373809v1
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Genome Sequence of the Pea Aphid Acyrthosiphon pisum
Iagc The International Aphid Genomics Consortium
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Federica Calevro
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Hubert Charles
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Stefano Colella
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Gérard Febvay
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hal-00459970v1
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Glutamine-Expanded Ataxin-7 Alters TFTC/STAGA Recruitment and Chromatin Structure Leading to Photoreceptor Dysfunction
Dominique Helmlinger
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Sara Hardy
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Gretta Abou-Sleymane
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Adrien Eberlin
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Aaron Bowman
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hal-02371867v1
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Discovery of common and rare genetic risk variants for colorectal cancer
Jeroen Huyghe
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Stephanie Bien
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Tabitha Harrison
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Hyun Min Kang
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Sai Chen
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hal-02153497v1
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The Genome of the Sea Urchin Strongylocentrotus purpuratus
E. Sodergren
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G. Weinstock
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E. Davidson
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R. Cameron
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hal-02117436v1
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De Novo Truncating Mutations in the kinetochore-microtubules attachment gene CHAMP1 Cause Syndromic Intellectual Disability
Bertrand Isidor
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Sébastien Küry
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Jill A. Rosenfeld
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Thomas Besnard
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Sébastien Schmitt
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hal-01259225v1
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A high-resolution anatomical atlas of the transcriptome in the mouse embryo.
Graciana Diez-Roux
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Sandro Banfi
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Marc Sultan
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Lars Geffers
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Santosh Anand
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inserm-00707211v1
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Gain-of-Function Mutations in RPA1 Cause a Syndrome with Short Telomeres and Somatic Genetic Rescue
Richa Sharma
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Sushree Sahoo
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Masayoshi Honda
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Sophie Granger
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Charnise Goodings
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hal-03451935v1
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Associations of autozygosity with a broad range of human phenotypes
David J. Clark
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Yukinori Okada
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Kristjan Moore
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Dan Mason
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Nicola Pirastu
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Journal articles
hal-02651737v1
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Mouse mutant phenotyping at scale reveals novel genes controlling bone mineral density
Anna Swan
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Christine Schütt
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Jan Rozman
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Maria del Mar Muñiz Moreno
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Stefan Brandmaier
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Journal articles
hal-03433523v1
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Practice patterns for chronic hypoparathyroidism: data from patients and physicians in France
Jean-Philippe Bertocchio
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Natalie Grosset
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Lionel Groussin
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Peter Kamenicky
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Fabrice Larceneux
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Journal articles
hal-03510866v1
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A framework for an evidence-based gene list relevant to autism spectrum disorder
Christian Schaaf
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Catalina Betancur
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Ryan Yuen
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Jeremy Parr
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David Skuse
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inserm-03133319v1
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Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway
Justyna A. Karolak
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Marie Vincent
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Gail Deutsch
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Tomasz Gambin
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Benjamin Cogne
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Journal articles
hal-02461467v1
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Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond–like features
Raphael Carapito
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Martina Konantz
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Catherine Paillard
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Zhichao Miao
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Angélique Pichot
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Journal articles
hal-02171273v1
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Rifapentine access in Europe: growing concerns over key tuberculosis treatment component
Lorenzo Guglielmetti
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Gunar Günther
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Claude Leu
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Daniela Cirillo
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Raquel Duarte
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Journal articles
hal-03689715v1
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Insufficient Evidence for “Autism-Specific” Genes
Scott M. Myers
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Thomas D. Challman
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Raphael Bernier
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Thomas Bourgeron
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Wendy K. Chung
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pasteur-03325406v1
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The epigenetic landscape of mammary gland development and functional differentiation
Monique Rijnkels
,
Elena Kabotyanski
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Mohamad B. Montazer-Torbati
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Catherine Hue-Beauvais
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Yegor Vassetzky
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hal-02664021v1
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