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Author/Creator Shamseldin, Hanan

1. Biallelic Loss‐of‐Function NDUFA12 Variants Cause a Wide Phenotypic Spectrum from Leigh/Leigh‐Like Syndrome to Isolated Optic Atrophy. Issue 2 (3rd January 2022)

Authors:
Magrinelli, Francesca; Cali, Elisa; Braga, Vinícius Lopes; Yis, Uluç; Tomoum, Hoda; Shamseldin, Hanan; Raiman, Julian; Kernstock, Christoph; Rezende Filho, Flávio Moura; Barsottini, Orlando Graziani Povoas; Taylor, Robert W.; Østergaard, Elsebet; Tamim, Abdullah; Schäferhoff, Karin; Sallum, Julia...
Journal:
Movement disorders clinical practice
Issue:
Volume 9:Issue 2(2022)
Page Start:
218
Record Type:
Journal Article
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2. Expanding the phenome and variome of skeletal dysplasia. (December 2018)

Authors:
Maddirevula, Sateesh; Alsahli, Saud; Alhabeeb, Lamees; Patel, Nisha; Alzahrani, Fatema; Shamseldin, Hanan; Anazi, Shams; Ewida, Nour; Alsaif, Hessa; Mohamed, Jawahir; Alazami, Anas; Ibrahim, Niema; Abdulwahab, Firdous; Hashem, Mais; Abouelhoda, Mohamed; Monies, Dorota; Al Tassan, Nada; Alshammari...
Journal:
Genetics in medicine
Issue:
Volume 20:Number 12(2018)
Page Start:
1609
Record Type:
Journal Article
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3. GNB5 mutation causes a novel neuropsychiatric disorder featuring attention deficit hyperactivity disorder, severely impaired language development and normal cognition. Issue 1 (December 2016)

Authors:
Shamseldin, Hanan; Masuho, Ikuo; Alenizi, Ahmed; Alyamani, Suad; Patil, Dipak; Ibrahim, Niema; Martemyanov, Kirill; Alkuraya, Fowzan
Journal:
Genome biology
Issue:
Volume 17:Issue 1(2016)
Page Start:
1
Record Type:
Journal Article
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