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                             17 results found
no title author magazine year volume issue page(s) type
1 A case of mild CHARGE syndrome associated with a splice site mutation in CHD7 Wells, Constance
 2016
 59 4 p. 195-197
3 p.
 article
2 A new familial case of microdeletion syndrome 10p15.3 Eggert, Marlene
 2016
 59 4 p. 179-182
4 p.
 article
3 A novel homozygous splice site mutation in NALCN identified in siblings with cachexia, strabismus, severe intellectual disability, epilepsy and abnormal respiratory rhythm Gal, Moran
 2016
 59 4 p. 204-209
6 p.
 article
4 A structured assessment of motor function and behavior in patients with Kleefstra syndrome Schmidt, Susanne
 2016
 59 4 p. 240-248
9 p.
 article
5 CHD8 intragenic deletion associated with autism spectrum disorder Stolerman, Elliot S.
 2016
 59 4 p. 189-194
6 p.
 article
6 De novo TUBB2B mutation causes fetal akinesia deformation sequence with microlissencephaly: An unusual presentation of tubulinopathy Laquerriere, Annie
 2016
 59 4 p. 249-256
8 p.
 article
7 Genetics of human isolated acromesomelic dysplasia Khan, Saadullah
 2016
 59 4 p. 198-203
6 p.
 article
8 Immunoglobulin K light chain deficiency: A rare, but probably underestimated, humoral immune defect Sala, Pierguido
 2016
 59 4 p. 219-222
4 p.
 article
9 Incomplete penetrance of biallelic ALDH1A3 mutations Plaisancié, Julie
 2016
 59 4 p. 215-218
4 p.
 article
10 Maternally inherited autosomal dominant intellectual disability caused by 16p13.3 microduplication Lee, Cha Gon
 2016
 59 4 p. 210-214
5 p.
 article
11 Neonatal severe hyperparathyroidism caused by homozygous mutation in CASR: A rare cause of life-threatening hypercalcemia Murphy, Heidi
 2016
 59 4 p. 227-231
5 p.
 article
12 Novel VIPAS39 mutation in a syndromic patient with arthrogryposis, renal tubular dysfunction and intrahepatic cholestasis Aflatounian, Majid
 2016
 59 4 p. 237-239
3 p.
 article
13 Pre- and post-natal growth in two sisters with 3-M syndrome Lugli, Licia
 2016
 59 4 p. 232-236
5 p.
 article
14 Seven novel mutations of the SMPD1 gene in four Chinese patients with Niemann-Pick disease type A and prenatal diagnosis for four fetuses Ding, Yuan
 2016
 59 4 p. 263-268
6 p.
 article
15 Somatic mosaicism of the PIK3CA gene identified in a Hungarian girl with macrodactyly and syndactyly Tripolszki, Kornélia
 2016
 59 4 p. 223-226
4 p.
 article
16 The use of two different MLPA kits in 22q11.2 deletion syndrome Evers, L.J.M.
 2016
 59 4 p. 183-188
6 p.
 article
17 Two familial microduplications of 15q26.3 causing overgrowth and variable intellectual disability with normal copy number of IGF1R Leffler, Melanie
 2016
 59 4 p. 257-262
6 p.
 article
                             17 results found
 
 Koninklijke Bibliotheek - National Library of the Netherlands