Results 131 to 140 of about 12,301 (210)

Prenatal Molecular Diagnosis of COL2A1-Associated Stickler Syndrome: Genotype-Phenotype Correlation in a Resource-Limited Healthcare Setting. [PDF]

Int J Mol Sci
Gyokova E, Hristova-Atanasova E, Kirovakov Z, Dimitrova K.   +3 more
europepmc   +1 more source

Novel compound heterozygous FAM20C variants cause Raine syndrome - retrospective prenatal diagnosis and literature review. [PDF]

Orphanet J Rare Dis
Lazarczyk E, Pilarska-Deltow M, Sowinska-Seidler A, Repczynska A, Drozniewska M, Jamsheer A, Zdrojewska A, Pasinska M, Haus O.   +8 more
europepmc   +1 more source

A Case of Malan Syndrome With Pulmonary Artery Dilatation due to a Novel Frameshift Variant in Exon 2 of the <i>NFIX</i> Gene. [PDF]

Case Rep Genet
Mori T, Hirano M, Fuse S, Katai M, Shigetomi H.   +4 more
europepmc   +1 more source

Perioperative Care of a Child With Miller-Dieker Syndrome. [PDF]

J Med Cases
Currier SA, Relland LM, Tobias JD.
europepmc   +1 more source

Dental Management of a Child With Temtamy Syndrome: A Case Report. [PDF]

Cureus
AlHarbi KM, Hakeem MM, Almutairy AS, Abouelnour MM, Farghal LM.   +4 more
europepmc   +1 more source

Long-term CPAP treatment for OSA in pycnodysostosis: A 15-year longitudinal follow-up of a patient. [PDF]

Respir Med Case Rep
Bouhamdi A, Chefchaou Y, Benjelloun M, Labyad S, Abida A, Souirti Z, Abourazzak S, Tizniti S, Serraj M, Amara B, Benjelloun MC, Elbiaze M.   +11 more
europepmc   +1 more source

The Role of a Pacifier Shield: A Unique Perspective on Mandibular Growth and Airway Health: Part 2. [PDF]

Children (Basel)
Friedman C, Tesini DA, Kethu A.
europepmc   +1 more source

Lamb-Shaffer syndrome in a Chinese adolescent: A case report. [PDF]

Medicine (Baltimore)
Xu J, Song X, Zeng L, Zou C.
europepmc   +1 more source

Wnt5a gain- and loss-of-function in bone have distinct craniofacial phenotypes. [PDF]

JBMR Plus
Houchen CJ, Hahn Leat P, Delich C, Vang J, Yingling-Haggard S, Roberts JL, Drissi H, Bumann EE.   +7 more
europepmc   +1 more source