Results 101 to 110 of about 955 (143)

Genetic and Environmental Risk Factors for Autism Spectrum Disorder in Saudi Arabia: A Systematic Review. [PDF]

Cureus
Hamed NF, Alqahtani AM, Alshaibani F, Elsharif SM, Alamri SAS, Serhan A.   +5 more
europepmc   +1 more source

JOB: Japan Omics Browser provides integrative visualization of multi-omics data. [PDF]

BMC Genomics
Takahashi Y, Wang QS, Hasegawa T, Namkoong H, Inoue F, Fukunaga K, Imoto S, Miyano S, Okada Y, Japan COVID-19 Task Force.   +9 more
europepmc   +1 more source

Lysosomal storage disorders in nonimmune hydrops fetalis diagnosed by exome sequencing. [PDF]

Orphanet J Rare Dis
Makhamreh MM, Shivashankar K, Rice SM, Wodoslawsky S, Grant C, McLaren R, Berger SI, Al-Kouatly HB.   +7 more
europepmc   +1 more source

A Rare Case of Late Infantile Form of Multiple Sulfatase Deficiency. [PDF]

Indian Dermatol Online J
Lakum MP, Padhiyar JK, Patel NH, Patel KA.   +3 more
europepmc   +1 more source

Therapeutic Insights and Immune Pathway Connections Revealed by Core Symptom Gene Network Analysis in Ankylosing Spondylitis. [PDF]

Curr Issues Mol Biol
Choi Y, Kim MH, Kim DY.
europepmc   +1 more source

A novel iPSC model reveals selective vulnerability of neurons in multiple sulfatase deficiency. [PDF]

Mol Genet Metab
Pham V, Sertori Finoti L, Cassidy MM, Maguire JA, Gagne AL, Waxman EA, French DL, King K, Zhou Z, Gelb MH, Wongkittichote P, Hong X, Schlotawa L, Davidson BL, Ahrens-Nicklas RC.   +14 more
europepmc   +1 more source

Entering the playing field: Therapy for multiple sulfatase deficiency. [PDF]

Mol Ther
Dickson P.
europepmc   +1 more source

Impaired collagen deposition in the absence of ERp44. [PDF]

iScience
Pannese M, Canciani B, Carnovali M, Dalla Torre M, Gallucci G, Mangiavini L, Mariotti M, Panina-Bordignon P, Van't Hof R, Sitia R, Anelli T.   +10 more
europepmc   +1 more source

Newborn Screening for Metachromatic Leukodystrophy: A Systematic Literature Review. [PDF]

Int J Neonatal Screen
Laugwitz L, Shenker A, Sluys EF, Pintat S, Whiteman D, Chanson C.   +5 more
europepmc   +1 more source