Results 91 to 100 of about 557 (164)

Nail dysplasia and digital hypoplasia ‒ Coffin-Siris syndrome. [PDF]

An Bras Dermatol
Navarro-Bielsa A, Ruiz-de-Larramendiz DR, Abenia-Usón P, Gracia-Cazaña T, Gilaberte Y.   +4 more
europepmc   +1 more source

First Prenatal Case of Genotypically and Phenotypically Overlapping Double Molecular Diagnosis of Van den Ende-Gupta and 22q11.2 Deletion Syndromes. [PDF]

Mol Genet Genomic Med
Racine C, Garde A, Martz O, Safraou H, Eluard V, Rousseau T, Marle N, Harizay FT, Martin L, Maraval J, Bruel AL, Philippe C, Thauvin-Robinet C, Faivre L.   +13 more
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

Application of four-section approach for prenatal diagnosis of Pierre robin sequence. [PDF]

J Med Ultrason (2001)
Li X, Liu L, Yan F, Yang X, Xiu G, Dong X.   +5 more
europepmc   +1 more source

[Comprehensive treatment of a child with temporomandibular joint ankylosis and micrognathism].

Czasopismo stomatologiczne, 1979
W, Partyka, M, Jabłoński
openaire   +1 more source

Genetic analysis and functional assessment of a TGFBR2 variant in micrognathia and cleft palate. [PDF]

PLoS One
Michaels JR, Iyyanar PPR, Husami A, Vontell AM, Brugmann SA, Stottmann RW.   +5 more
europepmc   +1 more source

Endocrine Phenotypes and Hormonal Treatment in Meier-Gorlin Syndrome: Report of Two Cases and a Systematic Review of Literature. [PDF]

Clin Endocrinol (Oxf)
Swapnil K, Basu R, Nanda R, Mondal S, Mandal S, Goswami S, Baidya A, Sengupta N.   +7 more
europepmc   +1 more source

Characterizing Mandibular Morphology in Robin Sequence-A 3D Statistical Shape Analysis. [PDF]

J Craniofac Surg
El Ghoul K, O' Sullivan E, Guntaka PK, van Heesch GG, Joosten KFM, Pullens B, Khonsari RH, Resnick CM, van de Lande LS, Wolvius EB.   +9 more
europepmc   +1 more source

Prenatal Coffin-Siris Syndrome: Expanding the Phenotypic and Genotypic Spectrum of the Disease. [PDF]

Pediatr Dev Pathol
Keskinen S, Paakkola T, Mattila M, Hietala M, Koillinen H, Laine J, Haanpää MK.   +6 more
europepmc   +1 more source

Poland Syndrome in a Pregnancy From an Assisted Reproductive Technology (ART) Cycle With In Vitro Maturation (IVM) and Rescue Intracytoplasmic Sperm Injection (ICSI). [PDF]

Cureus
Petrogiannis N, Petrogiannis S, Filippa M, Alexakis C, Chatzimeletiou K.   +4 more
europepmc   +1 more source