A CASE OF DE NOVO MOSAIC 18q21.3 DELETION WITH A MILD PHENOTYPEALP, M. Y; CEBI, A. H; SEYHAN, S et al.Genetic counseling. 2014, Vol 25, Num 1, pp 71-73, issn 1015-8146, 3 p.Article

THE XXXXY SYNDROME: A NEW CASE WITH TALAMIC LESIONKIRAZ, A; UNVER, O; PAPATYA CAKIR, E. D et al.Genetic counseling. 2014, Vol 25, Num 3, pp 341-344, issn 1015-8146, 4 p.Article

Adaptive Behavior and Problem Behavior in Young Children With Williams SyndromeHAHN, Laura J; FIDLER, Deborah J; HEPBURN, Susan L et al.American journal on intellectual and developmental disabilities (Print). 2014, Vol 119, Num 1, issn 1944-7515, 49-63, 100-103 [19 p.]Article

Modeling Family Adaptation to Fragile X SyndromeRASPA, Melissa; BAILEY, Donald B; BANN, Carla et al.American journal on intellectual and developmental disabilities (Print). 2014, Vol 119, Num 1, issn 1944-7515, 33-48, 100, 102 [18 p.]Article

Pharmacological Rescue of Cortical Synaptic and Network Potentiation in a Mouse Model for Fragile X SyndromeTAO CHEN; LU, Jing-Shan; QIAN SONG et al.Neuropsychopharmacology (New York, NY). 2014, Vol 39, Num 8, pp 1955-1967, issn 0893-133X, 13 p.Article

Social Approach and Emotion Recognition in Fragile X SyndromeWILLIAMS, Tracey A; PORTER, Melanie A; LANGDON, Robyn et al.American journal on intellectual and developmental disabilities (Print). 2014, Vol 119, Num 2, issn 1944-7515, 133-150, 199, 201 [20 p.]Article

Effets d'annonce et processus diagnostique À propos du syndrome de Klinefelter = The impact of diagnosis announcement: about Klinefelter syndromeLUBIENSKI, Aurélien; GUENICHE, Karinne; POLAK, Michel et al.Perspectives psychiatriques (Paris). 2014, Vol 53, Num 1, pp 30-35, issn 0031-6032, 6 p.Article

Object-related generativity in children with Down syndromeFIDLER, Deborah J; WILL, Elizabeth; DAUNHAUER, Lisa A et al.Research in developmental disabilities (Print). 2014, Vol 35, Num 12, pp 3379-3385, issn 0891-4222, 7 p.Article

ANAL ATRESIA, ABNORMAL GENITALIA, AND ABSENT THUMB: CONGENITAL MALFORMATIONS ASSOCIATED WITH MOSAIC RING CHROMOSOME 13OCAK, Z; OZLU, T; VURAL, M et al.Genetic counseling. 2013, Vol 24, Num 2, pp 157-160, issn 1015-8146, 4 p.Article

Arterial stiffness response to exercise in persons with and without Down syndromeMIN HU; HUIMIN YAN; RANADIVE, Sushant M et al.Research in developmental disabilities (Print). 2013, Vol 34, Num 10, pp 3139-3147, issn 0891-4222, 9 p.Article

Attribution of negative intention in Williams syndromeGODBEE, Kali; PORTER, Melanie A.Research in developmental disabilities (Print). 2013, Vol 34, Num 5, pp 1602-1612, issn 0891-4222, 11 p.Article

DE NOVO dup(7)(q21q22.2) and CYTOGENETICS of 7q21q34 DUPLICATIONSRIVERA, H; VASQUEZ-VELASQUEZ, A. I.Genetic counseling. 2013, Vol 24, Num 3, pp 291-297, issn 1015-8146, 7 p.Article

Diurnal Cortisol Profile in Williams Syndrome in Novel and Familiar SettingsLENSE, Miriam Diane; TOMARKEN, Andrew J; DYKENS, Elisabeth M et al.American journal on intellectual and developmental disabilities (Print). 2013, Vol 118, Num 3, issn 1944-7515, 201-210, 244 [11 p.]Article

GENOME WIDE ANALYSIS IN A DISCORDANT MONOZYGOTIC TWIN WITH CAUDAL APPENDAGE AND MULTIPLE CONGENITAL ANOMALIESCOGULU, O; PARILTAY, E; KOROGLU, O. A et al.Genetic counseling. 2013, Vol 24, Num 1, pp 85-91, issn 1015-8146, 7 p.Article

PRENATAL DIAGNOSIS OF ISOLATED VENTRICULOMEGALY AS A SECOND TRIMESTER MANIFESTATION OF DE NOVO TERMINAL 6q25 DELETIONCETIN, Z; SANHAL, C; NUR GUZEL, B et al.Genetic counseling. 2013, Vol 24, Num 4, pp 427-429, issn 1015-8146, 3 p.Article

PARTIAL TRISOMY 2p24→pter AND MONOSOMY 18q22.1→qter RESULTING FROM PARENTAL TRANSLOCATIONATIK, T; DURMAZ, B; YORGANCI, O. U et al.Genetic counseling. 2013, Vol 24, Num 2, pp 179-184, issn 1015-8146, 6 p.Article

Rapid diagnosis of primary ciliary dyskinesia: cell culture and soft computing analysisPIFFERI, Massimo; BUSH, Andrew; MONTEMURRO, Francesca et al.The European respiratory journal. 2013, Vol 41, Num 4, pp 960-965, issn 0903-1936, 6 p.Article

Tat Pathway-Mediated Translocation of the Sec Pathway Substrate OprM, an Outer Membrane Subunit of the Resistance Nodulation Division Xenobiotic Extrusion Pumps, in Pseudomonas AeruginosaAKIBA, K; ANDO, T; ISOGAI, E et al.Chemotherapy (Basel). 2013, Vol 59, Num 2, pp 129-137, issn 0009-3157, 9 p.Article

Effects of calcium and training on the development of bone density in children with Down syndromeSHARIF MOHAMMAD REZA; RASOOL, Hemayattalab; MANSOUR, Sayyah et al.Research in developmental disabilities (Print). 2013, Vol 34, Num 12, pp 4304-4309, issn 0891-4222, 6 p.Article

Why Do Only Some Institutionalized Children Become Indiscriminately Friendly? Insights From the Study of Williams SyndromeSOARES, Isabel; BELSKY, Jay; MESQUITA, Ana R et al.Child development perspectives. 2013, Vol 7, Num 3, pp 187-192, issn 1750-8592, 6 p.Article

Acetazolamide for Severe Apnea in Pitt―Hopkins SyndromeVERHULST, Stijn L; DE DOOY, J; RAMET, J et al.American journal of medical genetics. Part A. 2012, Vol 158, Num 4, pp 932-934, issn 1552-4825, 3 p.Article

Additional Case of an Uncommon 22q11.2 Reciprocal Rearrangement in a Phenotypically Normal Mother of Children With 22q11.2 Deletion and 22q11.2 Duplication SyndromesFERNANDEZ, Luis; NEVADO, Julián; LAPUNZINA, Pablo et al.American journal of medical genetics. Part A. 2012, Vol 158, Num 11, pp 2963-2968, issn 1552-4825, 6 p.Article

EEC Syndrome-Like Phenotype in a Patient With an IRF6 MutationKOSAKI, Rika; KANEKO, Tsuyoshi; TORII, Chiharu et al.American journal of medical genetics. Part A. 2012, Vol 158, Num 5, pp 1219-1220, issn 1552-4825, 2 p.Article

Map of Autosomal Recessive Genetic Disorders in Saudi Arabia: Concepts and Future DirectionsAL-OWAIN, Mohammed; AL-ZAIDAN, Hamad; AL-HASSNAN, Zuhair et al.American journal of medical genetics. Part A. 2012, Vol 158, Num 10, pp 2629-2640, issn 1552-4825, 12 p.Article

The Idic[15] Syndrome: Expanding the PhenotypeCARUANA GALIZIA, Elizabeth; PALMER, Rodger; WATERS, Jonathan J et al.American journal of medical genetics. Part A. 2012, Vol 158, Num 6, pp 1505-1508, issn 1552-4825, 4 p.Article