Results 71 to 80 of about 2,707 (125)

Identification and prenatal diagnosis of a novel likely pathogenic ANOS1 variant in a large Chinese Kallmann syndrome family. [PDF]

Front Genet
Hao X, Ye Y, Liu M, Zhang Z, Ning H, Wang X, Tao F, Huang X, Du J, Li T.   +9 more
europepmc   +1 more source

Altered spontaneous brain activity is associated with cognitive impairment in patients with Kallmann syndrome. [PDF]

Reprod Biol Endocrinol
Fu Y, Wang X, Wu F, Zhang J, Wu H, Li Y, He Y, Men M, Zhu W, Li J, Grecucci A, Zhang Y, Yi X, Chen BT.   +13 more
europepmc   +1 more source

X-linked recessive Kallmann syndrome: A case report. [PDF]

World J Clin Cases, 2022
Zhang P, Fu JY.
europepmc   +1 more source

[Olfactory function and olfactory bulbs in patients with Kallmann syndrome]. [PDF]

Probl Endokrinol (Mosk), 2023
Kokoreva KD, Chugunov IS, Vladimirova VP, Ivannikova TE, Bogdanov VP, Bezlepkina OB.   +5 more
europepmc   +1 more source

Sperm DNA methylation profiling in patients with Kallmann syndrome. [PDF]

Endocr Connect
Wang R, Li X, Zhang J, Wang X, Mao J, Feng X, Wang S, Li Y, Wu X, Guo Y.   +9 more
europepmc   +1 more source

A novel missense variant of FGFR1 in a Japanese girl with Kallmann syndrome and holoprosencephaly. [PDF]

Clin Pediatr Endocrinol, 2023
Uchida N, Mizuno Y, Seno S, Koyama Y, Takahashi T, Shibata H, Narumi S, Hasegawa T, Ishii T.   +8 more
europepmc   +1 more source

Mirror Movements and Ichthyosis in a Child: A Rare Presentation of Kallmann Syndrome. [PDF]

Ann Indian Acad Neurol
Vachher H, Gandhi D, Pachapure S, Kamate M.   +3 more
europepmc   +1 more source

Mutation spectrum of Kallmann syndrome: identification of five novel mutations across ANOS1 and FGFR1. [PDF]

Reprod Biol Endocrinol, 2023
Chu G, Li P, Zhao Q, He R, Zhao Y.
europepmc   +1 more source

A rare case of congenital fibrosis of extra ocular muscles with Kallmann syndrome. [PDF]

Indian J Ophthalmol, 2022
Yenugandula R, Ramavath SK, Kishore K, Qureishi D.   +3 more
europepmc   +1 more source

Identification and Functional Characterization of a Novel Variant in the SEMA3A Gene in a Chinese Family with Kallmann Syndrome. [PDF]

Int J Endocrinol, 2022
Shu M, Wu H, Wei S, Shi Y, Li Z, Cheng Y, Fang L, Xu C.   +7 more
europepmc   +1 more source