G. Royer

发表

Prenatal diagnosis of carnitine palmitoyltransferase 2 deficiency in chorionic villi: a novel approach

J. Saudubray, T. Attié-Bitach, J. Bonnefont, 2003, Prenatal diagnosis.

NDP gene mutations in 14 French families with Norrie disease

A. Munnich, S. Hanein, J. Steffann, 2003, Human mutation.

Prenatal diagnosis of myopathy, encephalopathy, lactic acidosis, and stroke-like syndrome: contribution to understanding mitochondrial DNA segregation during human embryofetal development

A. Munnich, A. Rötig, A. Benachi, 2006, Journal of Medical Genetics.

19q13.11 deletion syndrome: a novel clinically recognisable genetic condition identified by array comparative genomic hybridisation

C Turleau, L Colleaux, M Vekemans, 2009, Journal of Medical Genetics.

DÉTECTION DE RÉARRANGEMENTS CHROMOSOMIQUES PAR LA TECHNIQUE DE CGH ARRAY CHEZ DES PATIENTS ATTEINTS DE DÉFICIENCE INTELLECTUELLE SYNDROMIQUE

G. Royer, 2011 .

OTC deficiency in females: Phenotype‐genotype correlation based on a 130‐family cohort

A. Munnich, F. Reyal, J. Steffann, 2021, Journal of inherited metabolic disease.

The gene for hereditary multiple exostoses does not map to the Langer-Giedion region (8q23-q24).

A. Munnich, S. Lyonnet, M. le Merrer, 1992, Journal of medical genetics.

Lack of interaction between NEMO and SHARPIN impairs linear ubiquitination and NF‐&kgr;B activation and leads to incontinentia pigmenti

A. Smahi, C. Bodemer, A. Munnich, 2017, The Journal of allergy and clinical immunology.

Insight into IKBKG/NEMO Locus: Report of New Mutations and Complex Genomic Rearrangements Leading to Incontinentia Pigmenti Disease

A. Smahi, C. Bodemer, A. Munnich, 2014, Human mutation.

Clinical Utility Gene Card for: incontinentia pigmenti

F. Fusco, J. Steffann, A. Pescatore, 2012, European Journal of Human Genetics.

Monozygotic twins discordant for submicroscopic chromosomal anomalies in 2p25.3 region detected by array CGH

A. Munnich, A. Bernheim, M. Vekemans, 2013, Clinical genetics.

Familial interstitial Xq27.3q28 duplication encompassing the FMR1 gene but not the MECP2 gene causes a new syndromic mental retardation condition

A. Munnich, A. Toutain, M. Vekemans, 2010, European Journal of Human Genetics.

MECP2 mutation in non-fatal, non-progressive encephalopathy in a male

A. Munnich, S. Lyonnet, V. Cormier-Daire, 2001, Journal of medical genetics.

The gene for X-linked hydrocephalus maps to Xq28, distal to DXS52.

C. Dubay, S. Lyonnet, A. Pelet, 1992, Genomics.

Single cell quantification of the 8993T>G NARP mitochondrial DNA mutation by fluorescent PCR.

A. Munnich, N. Frydman, R. Frydman, 2005, Molecular genetics and metabolism.

Prenatal exclusion of X‐linked hydrocephalus‐stenosis of the aqueduct of sylvius sequence using closely linked DNA markers

P. Bénit, A. Munnich, S. Lyonnet, 1993, Prenatal diagnosis.