Refining the phenotypical and mutational spectrum of Taybi-Linder syndrome.

Journal: Clinical genetics

Publication date: 2017

Journal: Clinical genetics

Publication Year: 2017

Authors & Co-authors:  Putoux A A Alqahtani A A Pinson L L Paulussen A D C AD Michel J J Besson A A Mazoyer S S Borg I I Nampoothiri S S Vasiljevic A A

Maternal non-recognition of Down syndrome in black South African infants.

Journal: Clinical genetics

Publication date: 1996

Journal: Clinical genetics

Publication Year: 1996

Authors & Co-authors:  Christianson A L AL Kromberg J G JG

The oligogenic model of amyotrophic lateral sclerosis; phenotypes of three Tunisian families.

Journal: Clinical genetics

Publication date: 2022

Journal: Clinical genetics

Publication Year: 2022

Authors & Co-authors:  Sghaier Ikram I Kacem Imen I Ticozzi Nicola N Mrabet Saloua S Paverelli Silvia S Abida Youssef Y Ratti Antonia A Silani Vincenzo V Gouider Riadh R

Knowledge and perceptions about fragile X syndrome and fragile X-premutation-associated conditions among medical doctors in Nigeria.

Journal: Clinical genetics

Publication date: 2024

Journal: Clinical genetics

Publication Year: 2024

Authors & Co-authors:  Mbachu Chioma N P CNP Hagerman Randi R Eseigbe Edwin E Odita Amalachukwu A Mbachu Ikechukwu I Ilikanu Samuel S Akowundu Kasarachi K Ndukwu Chizalu C Echezona Malachy M Okereke Onyedikachi O