Results 151 to 160 of about 3,111 (197)

P443: Blepharophimosis-intellectual developmental disorder syndrome: First reported case in Hispanic population

Genetics in Medicine Open
David Rodriguez, Luis Daniel Campos, Marisol Ibarra-Ramirez, Laura Martinez-De Villarreal   +3 more
doaj   +1 more source

Comment on: "Astigmatism in Duane Retraction Syndrome". [PDF]

BMC Ophthalmol
Farvardin H, Farvardin M.
europepmc   +1 more source

Expanding the Clinical Spectrum of PIEZO2 Duplications: A Case of Global Motor Delay, Congenital Sensory Neuropathy, and Musculoskeletal Abnormalities. [PDF]

Cureus
Lee G, Villar NM, Vo J, Kang L.
europepmc   +1 more source

The First Korean Case with Cardiac, Facial, and Digital Anomalies with Developmental Delay Caused by De Novo TRAF7 p.Arg655Gln Variant. [PDF]

Int J Mol Sci
Kim KH, Han JY, Park J, Cho JS.
europepmc   +1 more source

Editorial: The etiology and pathogenesis of craniomaxillofacial birth defects. [PDF]

Front Dent Med
Zhao H, Huang W, Liu H, Pan Y.
europepmc   +1 more source

眼科学 [PDF]

, 1996
北川 清隆, 小野津 博之, 山本 修一, 岡田 真弓, 新田 耕治, 早坂 征次, 林 由美子, 池田 成子, 渡辺 このみ, 矢野 宏樹, 鍜冶 兆宏, 長木 康典, 開 繁義   +12 more
core   +1 more source

Ankyloblepharon filiforme adnatum in a preterm neonate: a case report highlighting early recognition and surgical management. [PDF]

J Surg Case Rep
Al Khathami A, Al Subaie RS, Al Subaie M, Alsalouli FAA, Khan K.   +4 more
europepmc   +1 more source

Responding to comments on "Astigmatism in Duane Retraction syndrome". [PDF]

BMC Ophthalmol
Khorrami-Nejad M, Akbari MR, Masoomian B, Mahmood HA, Daneshvar K, Majdi A.   +5 more
europepmc   +1 more source

CLAPO syndrome: A case report emphasizing diagnosis and treatment options. [PDF]

JAAD Case Rep
Hewitt N, Williams J, Zinn Z.
europepmc   +1 more source