Suchergebnisse - "Stickler syndrome"

PubPharm (223)

1

Unraveling the genetic collagen connection : clinical and therapeutic insights on genetic connective tissue disorders

enthalten in: Advances in rheumatology (London, England) | 2024

von Salles Rosa Neto, N. | Pereira, I. | Sztajnbok, F. | +1

2

Unraveling the genetic collagen connection: clinical and therapeutic insights on genetic connective tissue disorders

enthalten in: Advances in rheumatology | 2024

von Salles Rosa Neto, N. | Pereira, I. | Sztajnbok, F. | +1

3

The molecular complexity of COL2A1 splicing variants and their significance in phenotype severity

enthalten in: Bone | 2024

von Viakhireva, I. | Bychkov, I. | Markova, T. | +6

4

Syndromic Piere Robbin Sequence- A Rare Presentation in Association with Multiple Heart Defects and Type III Stickler Syndrome

enthalten in: Indian journal of otolaryngology and head and neck surgery : official publication of the Association of Otolaryngologists of India | 2024

von Akhtar, S. | Wasif, M. | Afzal, Y. | +3

5

Outcomes of rhegmatogenous retinal detachment surgery in patients with Stickler syndrome

enthalten in: Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie | 2024

von Corcóstegui, I. | Subirás, J. | Corcóstegui, B.

6

Microphthalmia and congenital cataract in two patients with Stickler syndrome type II : a case report

enthalten in: Ophthalmic genetics | 2024

von Boysen, K. | Tümer, Z. | Bach-Holm, D. | +2

7

Use of vitreous phenotype as a key clinical marker to identify Ocular-only Stickler syndrome in a family with Marfan syndrome

enthalten in: European journal of ophthalmology | 2024

von Malik, H. | Soh, Z. | Nixon, T. | +5

8

Exome sequencing-aided precise diagnosis of four families with type I Stickler syndrome

enthalten in: Molecular genetics & genomic medicine | 2024

von Tian, R. | Tong, P. | He, Y. | +3

9

Retinal detachment with multiple macrocysts in Stickler syndrome: case report and review of the literature

in: Frontiers in Medicine | 2024

von Guina Liu | Ming Hu | Chengcheng Cai | +2

10

Retinal detachment with multiple macrocysts in Stickler syndrome : case report and review of the literature

enthalten in: Frontiers in medicine | 2024

von Liu, G. | Hu, M. | Cai, C. | +2

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