| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Autoimmune liver disease in Noonan Syndrome
|
Loddo, Italia
|
|
2015
|
58 |
3 |
p. 188-190
3 p.
|
artikel
|
| 2 |
Case of mild Schmid-type metaphyseal chondrodysplasia with novel sequence variation involving an unusual mutational site of the COL10A1 gene
|
Park, Hyunwoong
|
|
2015
|
58 |
3 |
p. 175-179
5 p.
|
artikel
|
| 3 |
Clinical and molecular delineation of a 16p13.2p13.13 microduplication
|
Tassano, E.
|
|
2015
|
58 |
3 |
p. 194-198
5 p.
|
artikel
|
| 4 |
DYRK1A mutations in two unrelated patients
|
Ruaud, Lyse
|
|
2015
|
58 |
3 |
p. 168-174
7 p.
|
artikel
|
| 5 |
Gastrointestinal problems in 15q duplication syndrome
|
Shaaya, Elias A.
|
|
2015
|
58 |
3 |
p. 191-193
3 p.
|
artikel
|
| 6 |
Letter regarding the article: “Root dentin anomaly and a PLG mutation” by Tananuvat et al.
|
Kurtulus-Waschulewski, Idil
|
|
2015
|
58 |
3 |
p. 199-200
2 p.
|
artikel
|
| 7 |
Long-term change of disease behavior in Papillon-Lefèvre syndrome: Seven years follow-up
|
Wang, Xinwen
|
|
2015
|
58 |
3 |
p. 184-187
4 p.
|
artikel
|
| 8 |
Molecular cytogenetic characterization of a familial pericentric inversion 3 associated with short stature
|
Dutta, Usha R.
|
|
2015
|
58 |
3 |
p. 154-159
6 p.
|
artikel
|
| 9 |
Molecular genetic analysis of trinucleotide repeat disorders (TRDs) in Indian population and application of repeat primed PCR
|
Das Bhowmik, Aneek
|
|
2015
|
58 |
3 |
p. 160-167
8 p.
|
artikel
|
| 10 |
Multiple congenital anomalies in two boys with mutation in HCFC1 and cobalamin disorder
|
Gérard, M.
|
|
2015
|
58 |
3 |
p. 148-153
6 p.
|
artikel
|
| 11 |
Neurological and cardiac responses after treatment with miglustat and a ketogenic diet in a patient with Sandhoff disease
|
Villamizar-Schiller, Ives T.
|
|
2015
|
58 |
3 |
p. 180-183
4 p.
|
artikel
|
| 12 |
No evidence for mosaic pathogenic copy number variations in cardiac tissue from patients with congenital heart malformations
|
Winberg, Johanna
|
|
2015
|
58 |
3 |
p. 129-133
5 p.
|
artikel
|
| 13 |
15q11.2 microdeletion (BP1–BP2) and developmental delay, behaviour issues, epilepsy and congenital heart disease: A series of 52 patients
|
Vanlerberghe, Clémence
|
|
2015
|
58 |
3 |
p. 140-147
8 p.
|
artikel
|
| 14 |
Response to the Letter to the Editor by Idil Kurtulus-Waschulewski; Gerhard Wahl, Prof. Dr.; Katalyn Dittrich; Volker Schuster
|
Kantaputra, Piranit Nik
|
|
2015
|
58 |
3 |
p. 201-
1 p.
|
artikel
|
| 15 |
Targeted carrier screening for four recessive disorders: High detection rate within a founder population
|
Mathijssen, Inge B.
|
|
2015
|
58 |
3 |
p. 123-128
6 p.
|
artikel
|
| 16 |
Very long-chain acyl-coenzyme A dehydrogenase deficiency in Chinese patients: Eight case reports, including one case of prenatal diagnosis
|
Li, Xiyuan
|
|
2015
|
58 |
3 |
p. 134-139
6 p.
|
artikel
|
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