Suchergebnisse - "Holoprosencephaly"

PubPharm (492)

1

Post-mortem rapid aneuploidy testing for holoprosencephaly

enthalten in: Birth defects research | 2024

von Gergely, L. | Repiská, V. | Böhmer, D. | +5

2

Differential alternative splicing analysis links variation in ZRSR2 to a novel type of oral-facial-digital syndrome

enthalten in: Genetics in medicine : official journal of the American College of Medical Genetics | 2024

von Hannes, L. | Atzori, M. | Goldenberg, A. | +26

3

Truncating variants of the sterol recognition region of SHH cause hypertelorism phenotype rather than hypotelorism-holoprosencephaly

enthalten in: American journal of medical genetics. Part A | 2024

von Yamada, M. | Mizuno, S. | Inaba, M. | +7

4

A male fetus with cyclopia was discovered after miscarriage : A rare case report from Syria

enthalten in: Clinical case reports | 2024

von Dakkak, T. | Mansour, M. | Jarbouh, H. | +1

5

DISP1 deficiency : monoallelic and biallelic variants cause a spectrum of midline craniofacial malformations

enthalten in: Genetics in medicine : official journal of the American College of Medical Genetics | 2024

von Lavillaureix, A. | Rollier, P. | Kim, A. | +39

6

Cheiloplasty for False Median Cleft Lip Associated With Holoprosencephaly : The Use of Skin Graft for Philtrum Reconstruction, the Risk of Simultaneous Columella Reconstruction

enthalten in: Eplasty | 2024

von Yauchi, K. | Kitano, D. | Omori, M.

7

Ethmocephaly, the Rarest Sub-Type of Holoprosencephaly: A Case Report

in: Research and Reports in Neonatology | 2024

von Geta G | Mesfin T | Tsegaye M | +4

8

Genotype-phenotype analysis of ocular findings in Rubinstein-Taybi syndrome - A case report and review of literature

enthalten in: Ophthalmic genetics | 2024

von Jin, E. | Le, H. | Jewell, A. | +1

9

Cranial vault reduction cranioplasty for severe macrocephaly due to holoprosencephaly and subdural hygroma : a case report

enthalten in: Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery | 2023

von Suryaningtyas, W. | Parenrengi, M.

10

Efficacy of tolvaptan in an infant with syndrome of inappropriate antidiuretic hormone secretion associated with holoprosencephaly : A case report

enthalten in: World journal of clinical cases | 2023

von Mori, M. | Takeshita, S. | Nakamura, N. | +5

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