Results 51 to 60 of about 79,532 (296)

A mutation in PDS causes non-syndromic recessive deafness [Letter] [PDF]

, 1998
A mutation in PDS causes non-syndromic recessive ...
Dilip Desmukh, Green, Eric D., Friedman, Thomas B., Wilcox, Edward R., Xiaoyan C. Li, Anil K. Lalwani, Lalwani, Anil K., Desmukh, Dilip, Thomas B. Friedman, Edward R. Wilcox, Eric D. Green, Li, Xiaoyan C., Lorraine A. Everett, Everett, Lorraine A.   +13 more
core   +1 more source

Non-syndromic monogenic female infertility.

Acta bio-medica : Atenei Parmensis, 2019
Infertility is a significant clinical problem. It affects 8-12% of couples worldwide, about 30% of whom are diagnosed with idiopathic infertility (infertility lacking any obvious cause). In 2010, the World Health Organization calculated that 1.9% of child-seeking women aged 20-44 years were unable to have a first live birth (primary infertility), and ...
Guerri G., Maniscalchi T., Barati S., Gerli S., Di Renzo G. C., Morte C. D., Marceddu G., Casadei A., Lagana A. S., Sturla D., Ghezzi F., Garzon S., Unfer V., Bertelli M., Paolacci S.   +14 more
openaire   +5 more sources

Genetic susceptibility to hereditary non-medullary thyroid cancer

Hereditary Cancer in Clinical Practice, 2022
Non-medullary thyroid cancer (NMTC) is the most common type of thyroid cancer. With the increasing incidence of NMTC in recent years, the familial form of the disease has also become more common than previously reported, accounting for 5–15% of NMTC ...
Tina Kamani, Parsa Charkhchi, Afshan Zahedi, Mohammad R. Akbari   +3 more
doaj   +1 more source

European Standard Clinical Practice Guideline and EXPeRT Recommendations for the Diagnosis and Management of Gastroenteropancreatic Neuroendocrine Neoplasms in Children and Adolescents

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Pediatric gastroenteropancreatic neuroendocrine neoplasms (GEP‐NENs) are extremely rare and clinically heterogeneous. Management has largely been extrapolated from adult practice. This European Standard Clinical Practice Guideline (ESCP), developed by the EXPeRT network in collaboration with adult NEN experts, provides (adult) evidence ...
Michaela Kuhlen, Calogero Virgone, Antje Redlich, Michael Abele, Ricardo Lopez‐Almaraz, Tal Ben‐Ami, Ewa Bien, Gianni Bisogno, Maja Mazic Cesen, Andrea Ferrari, Malgorzata A. Krawczyk, Yves Reguerre, Dominik T. Schneider, Ines B. Brecht, Charlotte Rigaud, Bilgehan Yalcin, Rainer Claus, Christian Vokuhl, Constantin Lapa, Jörg Fuchs, Segolene Hescot, Thomas Walter, Julien Hadoux, Daniel Orbach   +23 more
wiley   +1 more source

Data_Sheet_1_Cognitive functioning and clinical characteristics of children with non-syndromic orofacial clefts: A case-control study.pdf [PDF]

, 2023
IntroductionThe higher rate of neuropsychiatric disorders in individuals with non-syndromic orofacial clefts has been well documented by previous studies. Our goal was to identify children with non-syndromic orofacial clefts that are at risk for abnormal
Edit Molnár (14687032), Attila Vástyán (14687035), Györgyi Csábi (12855902), Kinga Amália Sándor-Bajusz (12444947), Tímea Dergez (14687029), Anna Zsigmond (10644164), Ágnes Till (10644158), Kinga Hadzsiev (4406725)   +7 more
core   +1 more source

Non–Syndromic Bilateral Supplemental Maxillary Lateral Incisors: A Rare Case [PDF]

Journal of Clinical and Diagnostic Research, 2013
Supernumerary teeth or hyperdontia are defined as the teeth that exceeds the normal dental formula, regardless of their location and morphology. A supernumerary tooth is a developmental anomaly and it has been argued to arise from multiple aetiologies ...
Ajay Nagpal, Manoj Kumar Hans, Shashit Shetty, Navpreet Kaur, Sunil Kumar   +4 more
doaj   +1 more source

Therapeutic Apheresis in Nigeria: A Multi‐Center Summary of Abstracts From the Inaugural Nigerian Society for Apheresis Scientific Meeting

Therapeutic Apheresis and Dialysis, EarlyView.
ABSTRACT Background Therapeutic apheresis (TA) is an established treatment modality for hematologic, neurologic, and immunologic disorders, yet access remains severely limited in sub‐Saharan Africa. Donor apheresis, including platelet apheresis collection from healthy donors, represents an important complementary modality supporting blood product ...
Nosa Bazuaye, Chimezie Okwuonu, Evelyn Idam, Folasade Adelekan‐Popoola, Shakirat Gold‐Olufadi, Olufunto Olufela Kalejaiye, Abdullateef Ogala, Zinnah Aloziem, Blossom Amamchukwu, Patience Elimia, Mkpoikanabasi Obot‐Obot, Henry Mbakwe, Praises Maduagwuna, Olatunji Akinrodoye, Chiamaka Anyanwu, Benjamin Anyanwu, Adedamola Akinsiku, Oluwatoyin A. Akinsiku, Muzamil O. Hassan, Fatiu A. Arogundade, Olalekan E. Ojo, Homayemem Weli, Jesupelumi Adenihun, Aderemi Adelaja, Ebun Bamgboye, Olalekan Olatise, Ade E. Faponle, Ayoola Odeyemi, Michael Muoka, Stephen Asaolu, Qudrat Busari, Blessing Dawudu, Michael Naiyeju, Rasheed A. Balogun   +33 more
wiley   +1 more source

Significance of connexion genes in non-syndromic deafness in Africans [PDF]

, 2013
Includes abstract.
Bosch, Jason
core  

Broadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRD [PDF]

, 2021
Pathogenic variants in INPP5E cause Joubert syndrome (JBTS), a ciliopathy with retinal involvement. However, despite sporadic cases in large cohort sequencing studies, a clear association with non-syndromic inherited retinal degenerations (IRDs) has not ...
Banin, E, Huckfeldt, R.M., Bujakowska, K.M., Deitch, I., Ba-Abbad, R, Larson, A., Larson, A, Pierce, EA, Dunet, V., Wagner, N.E., Dunet, V, Pierce, E.A., Arno, G., Coutinho-Santos, L., Webster, A.R., Sharon, D., Sangermano, R., Place, E.M., Sousa, AB, Coutinho-Santos, L, Sousa, A.B., Rosin, B., Place, EM, Webster, AR, Rivolta, C, Rosin, B, Ben-Yosef, T., Zampaglione, E., Deitch, I, Rivolta, C., AlTalbishi, A, Peter, VG, Ben-Yosef, T, Fulton, AB, Huckfeldt, RM, Sharon, D, Quinodoz, M., Quinodoz, M, Neves, M, Fulton, A.B., Michaelides, M., Banin, E., Sangermano, R, Bujakowska, KM, Ba-Abbad, R., AlTalbishi, A., Peter, V.G., Neves, M., Michaelides, M, Wagner, NE, Zampaglione, E, Arno, G   +51 more
core   +1 more source

Establishing an Apheresis Medicine Program in a Resource‐Constrained Setting: A 5‐Year Experience From Lagos, Nigeria

Therapeutic Apheresis and Dialysis, EarlyView.
ABSTRACT Background Establishing a comprehensive apheresis medicine program in a resource‐constrained setting presents significant structural, financial, and logistical challenges. Despite the growing clinical importance of apheresis services globally, published experience from sub‐Saharan Africa remains sparse.
Folasade Adelekan‐Popoola, Shakirat Gold‐Olufadi, Olufunto Olufela Kalejaiye, Abdullateef Ogala, Rasheed A. Balogun   +4 more
wiley   +1 more source