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Genetic Counseling (Geneva, Switzerland)|November 5, 2014
A case with 46,XX,del(11)(q23.2) karyotype and poor vision with literature reviewF Mahjoubi, F Razazian, R Torabi
Genetic Counseling (Geneva, Switzerland)|November 5, 2014
Early prenatal disruption; a foetus with features of severe limb body wall sequence, body stalk anomaly and amniotic bandsS Zeidler, G G Oudesluijs, E M Schoonderwaldt, et al.
Genetic Counseling (Geneva, Switzerland)|September 19, 2018
EXPANSION OF THE SHORT SYNDROME PHENOTYPE IN AN ADULT PATIENT WITH UNILATERAL BASAL GANGLIA CALCIFICATIONV M Salinas-Torres, E A De La O-Expinoza, R A Salinas-Torres
Genetic Counseling (Geneva, Switzerland)|September 19, 2018
CLINICAL EFFECT OF A MUTATION (p.Glu322Asp, c.966 G>T) IN PANK2 GENE IN A FAMILY WITH ATYPICAL PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATIONZ Ozozen Ayas, M Karkucak, R Oncel Ocal, et al.
Genetic Counseling (Geneva, Switzerland)|September 19, 2018
A THANATOPHORIC DYSPLASIA TYPE I CASE WITH A FGFR3 P.R248C MUTATION AND SURVIVAL BEYOND THE NEONATAL PERIODS Sahin, H Ograg, E Atas Aslan, et al.
Genetic Counseling (Geneva, Switzerland)|September 19, 2018
TWO DIFFERENT MUTATIONS OF GL13 GENE IN TWO DIFFERENT SYNDROMESS Candan, G Yesil, E Sen Dalkiran, et al.
Genetic Counseling (Geneva, Switzerland)|August 11, 2012
X-linked Aarskog syndrome: report on a novel FGD1 gene mutation. Executive dysfunction as part of the behavioural phenotypeW M A Verhoeven, J I M Egger, A J M Hoogeboom
Genetic Counseling (Geneva, Switzerland)|August 11, 2012
Warburg micro syndrome in two children from a highly inbred Turkish familyM S Yildirim, A G Zamani, B Bozkurt
Genetic Counseling (Geneva, Switzerland)|August 11, 2012
A report of three patients with MMP2 associated hereditary osteolysisS A Temtamy, S Ismail, M S Aglan, et al.
Genetic Counseling (Geneva, Switzerland)|August 11, 2012
Partial monosomy 9p (9p22.2-->pter) and partial trisomy 18q (18q21.32-->qter) in a female infant with anorectal malformationsC-P Chen, H-M Lin, C Leung, et al.
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