Suchergebnisse - "Syndrome"

PubPharm (14.240)

1

Journal of Metabolic Health

Erschienen: AOSIS, 2024-

2

Multiple Myeloma Patient with Secondary Liver and Tongue Involvement, Complicated by COVID-19-Induced ARDS: An Autopsy Case Report and Literature Review

in: Galician Medical Journal | 2024

von Viktoriya Matskevych | Khrystyna Ilnytska | Tetiana Lenchuk | +3

3

Psychotic illness in people with Prader–Willi syndrome: a systematic review of clinical presentation, course and phenomenology

in: Orphanet Journal of Rare Diseases | 2024

von Lucie C. S. Aman | Suzannah D. Lester | Anthony J. Holland | +1

4

Development and validation of parent-reported gastrointestinal health scale in MECP2 duplication syndrome

in: Orphanet Journal of Rare Diseases | 2024

von Davut Pehlivan | Sukru Aras | Daniel G. Glaze | +3

5

Clinical and genetic characterization of 47 Chinese pediatric patients with Pitt–Hopkins syndrome: a retrospective study

in: Orphanet Journal of Rare Diseases | 2024

von Tingting Zhao | Shengnan Wu | Yiping Shen | +4

6

Treatment guidelines for rare, early-onset conditions associated with epileptic seizures: a literature review on Rett syndrome and tuberous sclerosis complex

in: Orphanet Journal of Rare Diseases | 2024

von S. Amin | B. Ruban-Fell | I. Newell | +4

7

Rett syndrome in Ireland: a demographic study

in: Orphanet Journal of Rare Diseases | 2024

von Komal Zade | Ciara Campbell | Snow Bach | +2

8

Quantification of Proteus syndrome-associated lung disease

in: Orphanet Journal of Rare Diseases | 2024

von Christopher A. Ours | Anna Buser | Mia B. Hodges | +4

9

Molecular landscape of congenital vertebral malformations: recent discoveries and future directions

in: Orphanet Journal of Rare Diseases | 2024

von Anna Szoszkiewicz | Ewelina Bukowska-Olech | Aleksander Jamsheer

10

The spectrum of neurological presentation in individuals affected by TBL1XR1 gene defects

in: Orphanet Journal of Rare Diseases | 2024

von Amanda Nagy | Francine Molay | Sarah Hargadon | +12

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