| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('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.
|
artikel
|
| 2 |
A new familial case of microdeletion syndrome 10p15.3
|
Eggert, Marlene
|
|
2016
|
59 |
4 |
p. 179-182
4 p.
|
artikel
|
| 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.
|
artikel
|
| 4 |
A structured assessment of motor function and behavior in patients with Kleefstra syndrome
|
Schmidt, Susanne
|
|
2016
|
59 |
4 |
p. 240-248
9 p.
|
artikel
|
| 5 |
CHD8 intragenic deletion associated with autism spectrum disorder
|
Stolerman, Elliot S.
|
|
2016
|
59 |
4 |
p. 189-194
6 p.
|
artikel
|
| 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.
|
artikel
|
| 7 |
Genetics of human isolated acromesomelic dysplasia
|
Khan, Saadullah
|
|
2016
|
59 |
4 |
p. 198-203
6 p.
|
artikel
|
| 8 |
Immunoglobulin K light chain deficiency: A rare, but probably underestimated, humoral immune defect
|
Sala, Pierguido
|
|
2016
|
59 |
4 |
p. 219-222
4 p.
|
artikel
|
| 9 |
Incomplete penetrance of biallelic ALDH1A3 mutations
|
Plaisancié, Julie
|
|
2016
|
59 |
4 |
p. 215-218
4 p.
|
artikel
|
| 10 |
Maternally inherited autosomal dominant intellectual disability caused by 16p13.3 microduplication
|
Lee, Cha Gon
|
|
2016
|
59 |
4 |
p. 210-214
5 p.
|
artikel
|
| 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.
|
artikel
|
| 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.
|
artikel
|
| 13 |
Pre- and post-natal growth in two sisters with 3-M syndrome
|
Lugli, Licia
|
|
2016
|
59 |
4 |
p. 232-236
5 p.
|
artikel
|
| 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.
|
artikel
|
| 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.
|
artikel
|
| 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.
|
artikel
|
| 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.
|
artikel
|
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