Zoekresultaten - "homozygous"

Biallelic Variants in LAMB1 Causing Hydranencephaly: A Severe Phenotype of a Rare Malformative Encephalopathy door Kuntal Sen, Shagun Kaur, David W. Stockton, Mary Nyhuis, Jacquelyn Roberson

Connect to this object online.

An Unusual Case of Neonatal Hypotonia and Femur Fracture: Neuromuscular Variant of Glycogen Storage Disease Type IV door Handan Bezirganoglu, Kubra Adanur Saglam

Connect to this object online.

Novel Mutation of Interferon-γ Receptor 1 Gene Presenting as Early Life Mycobacterial Bronchial Disease door Maria J. Gutierrez MD, Neelu Kalra MD, Alexandra Horwitz MD, Gustavo Nino MD

Connect to this object online.

Combined GSTT1 Null, GSTM1 Null and XPD Lys/Lys Genetic Polymorphisms and Their Association with Increased Risk of Chronic Myeloid Leukemia door Abdalhabib EK, Jackson DE, Alzahrani B, Elfaki EM, Hamza A, Alanazi F, Ali EI, Algarni A, Ibrahim IK, Saboor M

Connect to this object online.

The association between diabetic nephropathy and polymorphisms in PPARγ Pro12Ala and CCR5δ 32 genes in type 2 diabetes door Asmaa I. Ahmed, Noha A. Osman, Mohamed M. NasrAllah, Manal M. Kamal

Connect to this object online.

Research of distribution pattern of allelic genes and genotypes of C/A polymorphism of COL1A1_1 collagen gene (RS1107946) in children with nasal obstruction of allergic genesis and... door Т. Ye. Shumna, O. M. Kamyshnyi, Т. P. Zinchenko

Connect to this object online.

Prevalência da hemoglobina S no Estado do Paraná, Brasil, obtida pela triagem neonatal Prevalence of hemoglobin S in the State of Paraná, Brazil, based on neonatal screening door Alexandra M. Watanabe, Mara Albonei D. Pianovski, José Zanis Neto, Leniza C. L. Lichtvan, Eleidi A. Chautard-, Mouseline T. Domingos, Ehrenfried O. Wittig

Connect to this object online.

Combined influence of polymorphic variants of PPAR-2 (rs1801282) and ACE (rs4646994) genes on the onset of non-alcoholic fatty liver disease in patients with essential arterial hy... door Yu. M. Yarynych, L. P. Sydorchuk

Connect to this object online.

Study of the association of distribution pattern of genotypes of C/A polymorphism of COL1A1_1 collagen gene (RS1107946) with indicators of external breathing in children with bronc... door Т. Ye. Shumna, S. M. Nedelska, O. S. Fedosieieva

Connect to this object online.

Combined influence of polymorphic variants of PPAR-2 (rs1801282) and ACE (rs4646994) genes on the onset of non-alcoholic fatty liver disease in patients with essential arterial hy... door Yu. M. Yarynych, L. P. Sydorchuk

Connect to this object online.

Netherton Syndrome in a Neonate with Possible Growth Hormone Deficiency and Transient Hyperaldosteronism door Chatziioannidis Ilias, Babatseva Evgenia, Patsatsi Aikaterini, Galli-Tsinopoulou Asimina, Sarri Constantina, Lithoxopoulou Maria, Mitsiakos George, Karagianni Paraskevi, Tsakalidis Christos, Mamuris Zissis, Nikolaidis Nikolaos

Connect to this object online.

Behavioral effects of the neurotoxin ß-N-methylamino-L-alanine on the mangrove rivulus (Kryptolebias marmoratus) larvae door Alessandra Carion, Julie Hétru, Angèle Markey, Victoria Suarez-Ulloa, Silvestre Frédéric

Connect to this object online.

Clinical and psychopathological features of the course and outcome of the first psychotic episode. door Yuri Bazhora, Valentyn Gudz, Valentina Mozgova, Kateryna Usychenko, Nikol Shvets

Connect to this object online.

Clinical features, laboratory and molecular findings of children with leukocyte adhesion deficiency type-III from a single center in India door Akshaya Chougule, Prasad Taur, Vaishnavi V. Iyengar, Vijaya Gowri, Bipin P. Kulkarni, Manisha R. Madkaikar, Minnie Bodhanwala, Mukesh M. Desai

Connect to this object online.

Infantile free sialic acid storage disease presenting as non-immune hydrops fetalis door Yaser Elsaba, Anwar Khan, Mahmoud Galal, Lakshmiprabha Lakshmanadoss, Mostafa Bolkini

Connect to this object online.

GENETIC ASPECTS OF ENDOMETRIAL CANCER door V. A. Pushkarev, V. A. Kulavsky, T. V. Viktorova, G. M. Iskhakova, E. V. Kulavsky

Connect to this object online.

Abnormalities in Haemoglobin Synthesis: Thalassemia and It's Epidemiology door Retno Dwi Wulandari

Connect to this object online.

The two sides of a coin: Pathogenicity and potential therapeutic of LDLRQ722* door Yingchao Zhou, Xin Tu

Connect to this object online.

TRMT10A Mutation in a Child with Diabetes, Short Stature, Microcephaly and Hypoplastic Kidneys door Eve Stern, Asaf Vivante, Ortal Barel, Yael Levy-Shraga

Connect to this object online.

Vitamin D-Resistant Rickets and Cinacalcet-One More Favorable Experience door Ramona C. Nicolescu, Jacques Lombet, Etienne Cavalier

Connect to this object online.