Population Screening for Hemoglobinopathies von Goonasekera, H.W, Paththinige, C.S, Dissanayake, V.H.W

Volltext

Novel variant in NSDHL gene associated with CHILD syndrome and syndactyly- a case report von Hettiarachchi, D, Panchal, Hetalkumar, Lai, P. S, Dissanayake, V. H. W

Volltext

Variant Profile of MECP2 Gene in Sri Lankan Patients with Rett Syndrome von Hettiarachchi, D., Neththikumara, N. F., Pathirana, B. A. P. S., Dissanayake, V. H. W.

Volltext

Genetic determinants of inherited susceptibility to hypercholesterolemia - a comprehensive literature review von Paththinige, C S, Sirisena, N D, Dissanayake, Vhw

Volltext

Mitochondrial diseases in South Asia – A systematic review von Hettiarachchi, D., Lakmal, K., Dissanayake, V.H.W.

Volltext

Accelerated lysine metabolism conveys kidney protection in salt-sensitive hypertension von Rinschen, Markus M., Palygin, Oleg, El-Meanawy, Ashraf, Domingo-Almenara, Xavier, Palermo, Amelia, Dissanayake, Lashodya V., Golosova, Daria, Schafroth, Michael A., Guijas, Carlos, Demir, Fatih, Jaegers, Johannes, Gliozzi, Megan L., Xue, Jingchuan, Hoehne, Martin, Benzing, Thomas, Kok, Bernard P., Saez, Enrique, Bleich, Markus, Himmerkus, Nina, Weisz, Ora A., Cravatt, Benjamin F., Krüger, Marcus, Benton, H. Paul, Siuzdak, Gary, Staruschenko, Alexander

Volltext

Novel frameshift variant in the PCNT gene associated with Microcephalic Osteodysplastic Primordial Dwarfism (MOPD) Type II and small kidneys von Hettiarachchi, D, Subasinghe, S M V, Anandagoda, G G, Panchal, Hetalkumar, Lai, P S, Dissanayake, V H W

Volltext

Three novel variants in the arylsulfatase A (ARSA) gene in patients with metachromatic leukodystrophy (MLD) von Hettiarachchi, D, Dissanayake, V H W

Volltext

Susceptible and Prognostic Genetic Factors Associated with Diabetic Peripheral Neuropathy: A Comprehensive Literature Review von Prabodha, L. B. L., Dissanayake, Vajira H. W., Sirisena, Nirmala D.

Volltext

A Concise Review of Ketogenic Dietary Interventions in the Management of Rare Diseases von Hettiarachchi, D., Lakmal, K., Dissanayake, V. H. W.

Volltext

Vitamin D3 suppresses Npt2c abundance and differentially modulates phosphate and calcium homeostasis in Npt2a knockout mice von Thomas, Linto, Dissanayake, Lashodya V., Tahmasbi, Maryam, Staruschenko, Alexander, Al-Masri, Sima, Dominguez Rieg, Jessica A., Rieg, Timo

Volltext

Spectrum of low-density lipoprotein receptor (LDLR) mutations in a cohort of Sri Lankan patients with familial hypercholesterolemia - a preliminary report von Paththinige, C S, Rajapakse, J R D K, Constantine, G R, Sem, K P, Singaraja, R R, Jayasekara, R W, Dissanayake, V H W

Volltext

Partial trisomy 16q21➔qter due to an unbalanced segregation of a maternally inherited balanced translocation 46,XX,t(15;16)(p13;q21): a case report and review of literature von Mishra, R, Paththinige, C S, Sirisena, N D, Nanayakkara, S, Kariyawasam, U G I U, Dissanayake, V H W

Volltext

Correction to: Three novel variants in the arylsulfatase A (ARSA) gene in patients with metachromatic leukodystrophy (MLD) von Hettiarachchi, D, Dissanayake, V H W

Volltext

Cenani-Lenz syndactyly syndrome - a case report of a family with isolated syndactyly von Hettiaracchchi, Dineshani, Bonnard, Carine, Jayawardana, S M A, Ng, Alvin Yu Jin, Tohari, Sumanty, Venkatesh, Byrappa, Reversade, Bruno, Singaraja, Roshni, Dissanayake, V H W

Volltext

Deletion of Kcnj16 altered transcriptomic and metabolomic profiles of Dahl salt-sensitive rats von Xu, Biyang, Dissanayake, Lashodya V., Levchenko, Vladislav, Zietara, Adrian, Kravtsova, Olha, Staruschenko, Alexander

Volltext

Optimizing amniotic membrane tissue banking protocols for ophthalmic use von Hettiarachchi, D., Dissanayake, V. H. W., Goonasekera, H. W. W.

Volltext

A child with multiple congenital anomalies due to partial trisomy 7q22.1 → qter resulting from a maternally inherited balanced translocation: a case report and review of literature... von Paththinige, C S, Sirisena, N D, Kariyawasam, U G I U, Ediriweera, R C, Kruszka, P, Muenke, M, Dissanayake, V H W

Volltext

Hypoxia-inducible factor-1α gene polymorphisms in early and late onset preeclampsia in Sinhalese women von Andraweera, P.H, Dekker, G.A, Thompson, S.D, Dissanayake, V.H.W, Jayasekara, R.W, Roberts, C.T

Volltext

Characterization of purinergic receptor 2 signaling in podocytes from diabetic kidneys von Palygin, Oleg, Klemens, Christine A., Isaeva, Elena, Levchenko, Vladislav, Spires, Denisha R., Dissanayake, Lashodya V., Nikolaienko, Oksana, Ilatovskaya, Daria V., Staruschenko, Alexander

Volltext