| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Altered peripheral blood leukocyte subpopulations, function, and gene expression in children with Down syndrome: implications for respiratory tract infection
|
Colvin, Kelley L.
|
|
|
68 |
C |
p.
|
artikel
|
| 2 |
A rare skeletal dysplasia in the etiology of severe scoliosis: Diaphanospondylodysostosis
|
Daşar, Tuğba
|
|
|
68 |
C |
p.
|
artikel
|
| 3 |
A spectrum of TP63-related disorders with eight affected individuals in five unrelated families
|
Soğukpınar, Merve
|
|
|
68 |
C |
p.
|
artikel
|
| 4 |
A systematic review of the assessment of the clinical utility of genomic sequencing: Implications of the lack of standard definitions and measures of clinical utility
|
Azuelos, Claudia
|
|
|
68 |
C |
p.
|
artikel
|
| 5 |
Beyond 'speech delay': Expanding the phenotype of BRPF1-related disorder
|
Morison, Lottie D.
|
|
|
68 |
C |
p.
|
artikel
|
| 6 |
Clinical manifestations and genetic mutation analysis of patients with mucopolysaccharidosis type VII in China
|
Su, Xueying
|
|
|
68 |
C |
p.
|
artikel
|
| 7 |
Development of a low-cost and accurate carrier screening method for spinal muscular atrophy in developing countries
|
Jiang, Yu
|
|
|
68 |
C |
p.
|
artikel
|
| 8 |
Disclosure of genetic risk to family members: A qualitative study on healthcare professionals' perceived roles and responsibilities
|
Mendes, Álvaro
|
|
|
68 |
C |
p.
|
artikel
|
| 9 |
ERN BOND: The key European network leveraging diagnosis, research, and treatment for rare bone conditions
|
Casareto, Lorena
|
|
|
68 |
C |
p.
|
artikel
|
| 10 |
Genome sequencing identify chromosome 9 inversions disrupting ENG in 2 unrelated HHT families
|
Tusseau, M.
|
|
|
68 |
C |
p.
|
artikel
|
| 11 |
Imaging in osteogenesis imperfecta: Where we are and where we are going
|
Gazzotti, S.
|
|
|
68 |
C |
p.
|
artikel
|
| 12 |
Impressive clinical improvement and disappearance of neuropathic pain in an adult patient with hypophosphatasia treated with asfotase alfa
|
Zervou, Zografia
|
|
|
68 |
C |
p.
|
artikel
|
| 13 |
Lenz-Majewski syndrome and recurrent otitis media: Are they related or not?
|
Maden Bedel, Fayize
|
|
|
68 |
C |
p.
|
artikel
|
| 14 |
Ligamentous laxity in children with achondroplasia: Prevalence, joint involvement, and implications for early intervention strategies
|
Romeo, Domenico Marco
|
|
|
68 |
C |
p.
|
artikel
|
| 15 |
Long-term clinical evaluation of patients with alpha-mannosidosis – A multicenter study
|
Köse, Engin
|
|
|
68 |
C |
p.
|
artikel
|
| 16 |
Pachydysostosis of the fibula in a case of familial adenomatous polyposis
|
Oliveira, Daniela
|
|
|
68 |
C |
p.
|
artikel
|
| 17 |
Prenatal onset GAPO syndrome with a novel ANTXR1 variant in an Indian child: Expansion of the phenotype & literature review
|
Balakrishnan, Surya
|
|
|
68 |
C |
p.
|
artikel
|
| 18 |
Rapid exome sequencing for children with severe acute encephalopathy – A case series
|
Habib, Clair
|
|
|
68 |
C |
p.
|
artikel
|
| 19 |
Recurrent MECR R258W causes adult-onset optic atrophy: A case report
|
Jia, Nan
|
|
|
68 |
C |
p.
|
artikel
|
| 20 |
TBX5 variants and cardiac phenotype: A systematic review of the literature and a novel variant
|
Møller Nielsen, Anne Kathrine
|
|
|
68 |
C |
p.
|
artikel
|
| 21 |
Two siblings with PEX11B-related peroxisome biogenesis disorder
|
Khoddam, Somayeh
|
|
|
68 |
C |
p.
|
artikel
|
| 22 |
X-linked hypophosphatemia: The value of feedback focus groups to assess patient and caregiver needs
|
Wagner, Estelle
|
|
|
68 |
C |
p.
|
artikel
|
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