Radu Harbuz

发表

Absent CNKSR2 causes seizures and intellectual, attention, and language deficits

S. Scherer, C. Marshall, S. Walker, 2014, Annals of neurology.

Exome sequencing as a first-tier test for copy number variant detection: retrospective evaluation and prospective screening in 2418 cases

Jean-François Taly, J. Thevenon, B. Cogné, 2021, Journal of Medical Genetics.

A French multicenter study of over 700 patients with 22q11 deletions diagnosed using FISH or aCGH

J. Toutain, C. Yardin, F. Vialard, 2015, European Journal of Human Genetics.

A recurrent deletion of DPY19L2 causes infertility in man by blocking sperm head elongation and acrosome formation.

P. Jouk, S. Viville, F. Abada, 2011, American journal of human genetics.

Identification of new FOXP3 mutations and prenatal diagnosis of IPEX syndrome

P. Jouk, P. Ray, J. Lunardi, 2010, Prenatal diagnosis.

Pregnancy outcomes in prenatally diagnosed 47, XXX and 47, XYY syndromes: a 30‐year French, retrospective, multicentre study

P. Chambon, N. Le Meur, C. Yardin, 2016, Prenatal diagnosis.

A new AURKC mutation causing macrozoospermia: implications for human spermatogenesis and clinical diagnosis.

P. Ray, J. Lunardi, R. Zouari, 2011, Molecular human reproduction.

Pregnancy outcomes of prenatally diagnosed Turner syndrome: a French multicenter retrospective study including a series of 975 cases

P. Chambon, N. Meur, N. Gruchy, 2014, Prenatal diagnosis.

Identification of a new recurrent aurora kinase C mutation in both European and African men with macrozoospermia.

M. Blum, P. Jouk, S. Viville, 2012, Human reproduction.

The Aurora Kinase C c.144delC mutation causes meiosis I arrest in men and is frequent in the North African population.

P. Jouk, S. Viville, P. Ray, 2009, Human molecular genetics.

PBX1 haploinsufficiency leads to syndromic congenital anomalies of the kidney and urinary tract (CAKUT) in humans

F. Béna, R. Christensen, P. Jouk, 2017, Journal of Medical Genetics.

Refining the regulatory region upstream of SOX9 associated with 46,XX testicular disorders of Sex Development (DSD)

M. Sibony, B. Gilbert-Dussardier, A. Kitzis, 2015, American journal of medical genetics. Part A.

Regulatory region upstream of SOX9 and 46,XX

B. Gilbert-Dussardier, K. McElreavey, R. Bhouri, 2015 .

Sperm Meiotic Segregation Analysis of Reciprocal Translocations Carriers: We Have Bigger FISH to Fry

P. Ray, C. Coutton, G. Martinez, 2023, International journal of molecular sciences.