| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A case of digenic maturity onset diabetes of the young with heterozygous variants in both HNF1Α and HNF1Β genes
|
Patouni, Konstantina
|
|
|
64 |
9 |
p.
|
artikel
|
| 2 |
Acute disseminated encephalomyelitis in a patient with Noonan syndrome: A rare autoinflammatory complication or coincidence?
|
Delehaye, Chiara
|
|
|
64 |
9 |
p.
|
artikel
|
| 3 |
A unique case of progressive hemifacial microsomia or Parry-Romberg syndrome associated with limb and brain anomalies with normal neurological findings: A review of the literature
|
Pattnaik, Anandita
|
|
|
64 |
9 |
p.
|
artikel
|
| 4 |
Clinical manifestations and novel pathogenic variants in SOX10 in eight Danish probands with Waardenburg syndrome
|
Moldenæs, Marika F.
|
|
|
64 |
9 |
p.
|
artikel
|
| 5 |
Clinical phenotypes and molecular findings in ten Chinese patients with Kleefstra Syndrome Type 1 due to EHMT1 defects
|
Huang, Qinrong
|
|
|
64 |
9 |
p.
|
artikel
|
| 6 |
Editorial Board
|
|
|
|
64 |
9 |
p.
|
artikel
|
| 7 |
Facial analysis technology for the detection of Down syndrome in the Democratic Republic of the Congo
|
Porras, Antonio R.
|
|
|
64 |
9 |
p.
|
artikel
|
| 8 |
Further refining the critical region of 10q26 microdeletion syndrome: A possible involvement of INSYN2 and NPS in the cognitive phenotype
|
Cherik, Florian
|
|
|
64 |
9 |
p.
|
artikel
|
| 9 |
Further report of MEDS syndrome: Clinical and molecular delineation of a new Tunisian case
|
Rjiba, Khouloud
|
|
|
64 |
9 |
p.
|
artikel
|
| 10 |
Human neuropathology confirms projection neuron and interneuron defects and delayed oligodendrocyte production and maturation in FOXG1 syndrome
|
Wilpert, Nina-Maria
|
|
|
64 |
9 |
p.
|
artikel
|
| 11 |
Lessons learned from drug trials in neurofibromatosis: A systematic review
|
Dhaenens, Britt A.E.
|
|
|
64 |
9 |
p.
|
artikel
|
| 12 |
Monogenic lupus due to DNASE1L3 deficiency in a pediatric patient with urticarial rash, hypocomplementemia, pulmonary hemorrhage, and immune-complex glomerulonephritis
|
Kisla Ekinci, Rabia Miray
|
|
|
64 |
9 |
p.
|
artikel
|
| 13 |
NAD(P)HX dehydratase (NAXD) deficiency due to a novel biallelic missense variant and review of literature
|
Majethia, Purvi
|
|
|
64 |
9 |
p.
|
artikel
|
| 14 |
Phenotype and progression among patients with dilated cardiomyopathy and RBM20 mutations
|
Robles-Mezcua, Ainhoa
|
|
|
64 |
9 |
p.
|
artikel
|
| 15 |
Phenotypic heterogeneity and mosaicism in Xia-Gibbs syndrome: Five Danish patients with novel variants in AHDC1
|
Faergeman, Soren L.
|
|
|
64 |
9 |
p.
|
artikel
|
| 16 |
Phenotypic variability of a TREX1 variant in Aicardi-Goutieres type 1 patients from the Indian subcontinent
|
Abraham, Suneetha Susan Cleave
|
|
|
64 |
9 |
p.
|
artikel
|
| 17 |
Severe neurodevelopmental disorder with intractable seizures due to a novel SLC1A4 homozygous variant
|
Sedláčková, Lucie
|
|
|
64 |
9 |
p.
|
artikel
|
| 18 |
Spondylenchondrodysplasia mimicking a systemic lupus erythematosus: A diagnostic challenge in a pediatric patient
|
Bağlan, Esra
|
|
|
64 |
9 |
p.
|
artikel
|
| 19 |
Targeted exome sequencing identified a novel frameshift variant in the PGAM2 gene causing glycogen storage disease type X
|
Nayab, Anam
|
|
|
64 |
9 |
p.
|
artikel
|
| 20 |
The adaptive functioning profile of Pitt-Hopkins syndrome
|
Pearson, Effie
|
|
|
64 |
9 |
p.
|
artikel
|
| 21 |
The genetic architecture of primary biliary cholangitis
|
Gerussi, Alessio
|
|
|
64 |
9 |
p.
|
artikel
|
| 22 |
Two novel variants in PLOD1 causing hydrocephalus in female newborn with kyphoscoliotic Ehlers-Danlos syndrome
|
Zhao, Yingchun
|
|
|
64 |
9 |
p.
|
artikel
|
| 23 |
Whole-exome sequencing increases the diagnostic rate for prenatal fetal structural anomalies
|
Lei, Ling
|
|
|
64 |
9 |
p.
|
artikel
|
Tijdschrift beschrijving