Options
SC Genetica Medica
40 results
Now showing 1 - 10 of 40
- PublicationNon-Syndromic Autosomal Dominant Hearing Loss: The First Italian Family Carrying a Mutation in the NCOA3 Gene
;Tesolin Paola; ;Notarangelo Michela ;Ortore Rocco Pio; ;Notarangelo Angelantonio - PublicationPlant Antimicrobial Peptides as Potential Tool for Topic Treatment of Hidradenitis Suppurativa
;Dos Santos Silva Carlos Andrè; ;Vilela LÃvia Maria Batista ;Roldan-Filho Ricardo Salas ;Amador VinÃcius Costa; ;Rêgo Mireli de Santana ;Benko-Iseppon Ana MariaCrovella Sergio - PublicationSPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females
;Gasparini Paolo Gruppo ;Radio Francesca Clementina ;Pang Kaifang ;Ciolfi Andrea ;Levy Michael A. ;Hernández-GarcÃa Andrés ;Pedace Lucia ;Pantaleoni Francesca ;Liu Zhandong ;de Boer Elke ;Jackson Adam ;Bruselles Alessandro ;McConkey Haley ;Stellacci Emilia ;Lo Cicero Stefania ;Motta Marialetizia ;Carrozzo Rosalba ;Dentici Maria Lisa ;McWalter Kirsty ;Desai Megha ;Monaghan Kristin G. ;Telegrafi Aida ;Philippe Christophe ;Vitobello Antonio ;Au Margaret ;Grand Katheryn ;Sanchez-Lara Pedro A. ;Baez Joanne ;Lindstrom Kristin ;Kulch Peggy ;Sebastian Jessica ;Madan-Khetarpal Suneeta ;Roadhouse Chelsea ;MacKenzie Jennifer J. ;Monteleone Berrin ;Saunders Carol J. ;Jean Cuevas July K. ;Cross Laura ;Zhou Dihong ;Hartley Taila ;Sawyer Sarah L. ;Monteiro FabÃola Paoli ;Secches Tania Vertemati ;Kok Fernando ;Schultz-Rogers Laura E.; ; ; ; ;Dallapiccola BrunoTartaglia Marco - PublicationHIV-1 Infection Transcriptomics: Meta-Analysis of CD4+ T Cells Gene Expression Profiles
;Coelho Antonio Victor Campos; ;de Melo João Paulo Britto ;Andrade-Santos José Leandro ;Guimarães Rafael Lima ;Crovella Sergio; - PublicationGenetic dissection of temperament personality traits in Italian isolates
; ;Minelli Alessandra ;Aere Susanna; ;Tesolin Paola; ;Gennarelli Massimo - Publication25-Hydroxyvitamin D serum levels inversely correlate to disease severity and serum C-reactive protein levels in patients with hidradenitis suppurativa
;Moltrasio C.; ;Genovese G.; ;Marzano A.V. ;Crovella Sergio - PublicationDysregulation of oncogenic factors by GFI1B p32: investigation of a novel GFI1B germline mutation
; ;Papa Nicole ;Morel-Kopp M.-C. ;Marconi C. ;Giangregorio T. ;Melazzini F. ;Bozzi V. ;Seri M. ;Noris P. ;Pecci A.; ; - PublicationThe landscape of autosomal-recessive pathogenic variants in European populations reveals phenotype-specific effects
;Fridman Hila ;Yntema Helger G. ;Mägi Reedik ;Andreson Reidar ;Metspalu Andres; ;Tyler-Smith Chris ;Xue Yali ;Carmi Shai ;Levy-Lahad Ephrat ;Gilissen ChristianBrunner Han G. - PublicationDietary Macronutrient Composition in Relation to Circulating HDL and Non-HDL Cholesterol
;Pinart Mariona ;Jeran Stephanie ;Boeing Heiner ;Stelmach-Mardas Marta ;Standl Marie ;Schulz Holger ;Harris Carla ;von Berg Andrea ;Herberth Gunda ;Koletzko Sybille ;Linseisen Jakob ;Breuninger Taylor A. ;Nöthlings Ute ;Barbaresko Janett ;Benda Stefan ;Lachat Carl ;Yang Chen; ; ;Rojo-MartÃnez Gemma ;Castaño LuÃs ;Guillaume Michèle ;Donneau Anne Françoise ;Hoge Axelle ;Gillain Nicolas ;Avraam Demetris ;Burton Paul R. ;Bouwman Jildau ;Pischon TobiasNimptsch Katharina