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 |