| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Andersen-Tawil syndrome: Overlapping clinical features with Noonan syndrome?
|
van der Werf - ’t Lam, A.S.
|
|
|
65 |
1 |
p.
|
artikel
|
| 2 |
A novel likely pathogenic PLCG2 variant in a patient with a recurrent skin blistering disease and B-cell lymphopenia
|
Park, Hee Sue
|
|
|
65 |
1 |
p.
|
artikel
|
| 3 |
Biallelic loss-of-function variants of GFRA1 cause lethal bilateral renal agenesis
|
Al-Shamsi, Bushra
|
|
|
65 |
1 |
p.
|
artikel
|
| 4 |
Broadening the phenotype of LRRK1 mutations - Features of malignant osteopetrosis and optic nerve atrophy with intrafamilial variable expressivity
|
Chorin, Odelia
|
|
|
65 |
1 |
p.
|
artikel
|
| 5 |
Challenges and practical solutions for managing secondary genomic findings in primary care
|
Sebastian, Agnes
|
|
|
65 |
1 |
p.
|
artikel
|
| 6 |
Congenital heart defects in the recurrent 2q13 deletion syndrome
|
Digilio, M.C.
|
|
|
65 |
1 |
p.
|
artikel
|
| 7 |
Duplication, not partial trisomy, is the cytogenetic term to describe a gain of a DNA segment
|
Madan, Kamlesh
|
|
|
65 |
1 |
p.
|
artikel
|
| 8 |
Editorial Board
|
|
|
|
65 |
1 |
p.
|
artikel
|
| 9 |
Endometrial cancer may be part of the MUTYH-associated polyposis cancer spectrum
|
Villy, Marie-Charlotte
|
|
|
65 |
1 |
p.
|
artikel
|
| 10 |
Epilepsy in KAT6A syndrome: Description of two individuals and revision of the literature
|
Troisi, Serena
|
|
|
65 |
1 |
p.
|
artikel
|
| 11 |
European Medical Education Initiative on Noonan syndrome: A clinical practice survey assessing the diagnosis and clinical management of individuals with Noonan syndrome across Europe
|
García-Miñaúr, Sixto
|
|
|
65 |
1 |
p.
|
artikel
|
| 12 |
Expansion of the phenotypic and mutational spectrum of Carpenter syndrome
|
Khairat, Rabab
|
|
|
65 |
1 |
p.
|
artikel
|
| 13 |
Fanconi-like anemia related to a FANCM mutation
|
Encarnación, J.A.
|
|
|
65 |
1 |
p.
|
artikel
|
| 14 |
Further evidence of affected females with a heterozygous variant in FGF13 causing X-linked developmental and epileptic encephalopathy 90
|
Narayanan, Dhanya Lakshmi
|
|
|
65 |
1 |
p.
|
artikel
|
| 15 |
Gastric cancer genetic predisposition and clinical presentations: Established heritable causes and potential candidate genes
|
Garcia-Pelaez, José
|
|
|
65 |
1 |
p.
|
artikel
|
| 16 |
Genetics in primary congenital glaucoma: Implications in disease management and counseling
|
Leysen, L.
|
|
|
65 |
1 |
p.
|
artikel
|
| 17 |
Genome-wide variant calling in reanalysis of exome sequencing data uncovered a pathogenic TUBB3 variant
|
de Boer, Elke
|
|
|
65 |
1 |
p.
|
artikel
|
| 18 |
Hepatotoxicity of metronidazole in Cockayne syndrome: A clinical report
|
Hunaut, Thomas
|
|
|
65 |
1 |
p.
|
artikel
|
| 19 |
Management of cardiac aspects in children with Noonan syndrome – results from a European clinical practice survey among paediatric cardiologists
|
Wolf, Cordula M.
|
|
|
65 |
1 |
p.
|
artikel
|
| 20 |
Management of growth failure and other endocrine aspects in patients with Noonan syndrome across Europe: A sub-analysis of a European clinical practice survey
|
Edouard, Thomas
|
|
|
65 |
1 |
p.
|
artikel
|
| 21 |
Performance of meta-predictors for the classification of MED13L missense variations, implication of raw parameters
|
Smol, Thomas
|
|
|
65 |
1 |
p.
|
artikel
|
| 22 |
The consequences of hyperphagia in people with Prader-Willi Syndrome: A systematic review of studies of morbidity and mortality
|
Bellis, S.A.
|
|
|
65 |
1 |
p.
|
artikel
|
| 23 |
The European Rare Disease Network for HHT Frameworks for management of hereditary haemorrhagic telangiectasia in general and speciality care
|
Shovlin, C.L.
|
|
|
65 |
1 |
p.
|
artikel
|
| 24 |
Treatment of cutaneous neurofibromas with carbon dioxide laser: Technique and patient experience
|
Peltonen, Sirkku
|
|
|
65 |
1 |
p.
|
artikel
|
| 25 |
Variants of uncertain significance (VUS) in cancer predisposing genes: What are we learning from multigene panels?
|
Lucci-Cordisco, Emanuela
|
|
|
65 |
1 |
p.
|
artikel
|
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