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Refined by: topic: Case Report remove Journal Title: Clinical Case Reports remove topic: Mutation remove
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47, XXX syndrome with infertility, premature ovarian insufficiency, and streak ovaries

Rafique, Munazzah ; Alobaid, Solaiman ; Al‐Jaroudi, Dania

Clinical Case Reports, 2019, Vol.7(6), p.1238-1241 [Peer Reviewed Journal]

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A 19 year follow‐up of a woman with lipoprotein lipase deficiency treated with biliopancreatic diversion

Nosso, Gabriella ; Capaldo, Brunella ; Cocozza, Sara ; Vaccaro, Olga

Clinical Case Reports, 2015, Vol.3(12), p.1030-1033 [Peer Reviewed Journal]

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A case of pulmonary alveolar microlithiasis associated with a homozygous 195 kb deletion encompassing the entire SLC 34A2 gene

Stokman, Lara ; Nossent, Esther J ; Grunberg, Katrien ; Meijboom, Lilian ; Yakicier, Mustafa C ; Voorhoeve, Els ; Houweling, Arjan C

Clinical Case Reports, 2016, Vol.4(4), p.412-415 [Peer Reviewed Journal]

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A child with mastocytosis and lymphomatoid papulosis

Lange, Henriette Juel ; Agertoft, Lone ; Møller, Michael Boe ; Clemmensen, Ole ; Kristensen, Thomas ; Vestergaard, Hanne ; Mørtz, Charlotte G ; Bindslev‐Jensen, Carsten ; Broesby‐Olsen, Sigurd

Clinical Case Reports, 2016, Vol.4(5), p.517-519 [Peer Reviewed Journal]

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A delayed presentation of homozygous protein C deficiency in a series of children: a report on two molecular defects

Baothman, Abdullah A ; Alsobhi, Enaam ; Khayat, Hassan A ; Alsulami, Raed E ; Alkahtani, Abdulaziz S ; Al‐Thobyani, Abdelraheem A ; Marzouk, Yousef I ; Abdelaal, Mohammad A

Clinical Case Reports, 2017, Vol.5(3), p.315-320 [Peer Reviewed Journal]

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A linear lesion in a child with atopic dermatitis: Not a coincidence

Van Gysel, Julie ; Grimalt, Ramon

Clinical Case Reports, 2019, Vol.7(9), p.1667-1669 [Peer Reviewed Journal]

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A new case of Marine‐Lenhart syndrome with a papillary thyroid carcinoma

Lombardi, Martina ; Tonacchera, Massimo ; Macchia, Enrico

Clinical Case Reports, 2018, Vol.6(12), p.2299-2302 [Peer Reviewed Journal]

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A new case of “de novo” BRCA 1 mutation in a patient with early‐onset breast cancer

Antonucci, Ivana ; Provenzano, Martina ; Sorino, Luca ; Rodrigues, Melissa ; Palka, Giandomenico ; Stuppia, Liborio

Clinical Case Reports, 2017, Vol.5(3), p.238-240 [Peer Reviewed Journal]

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A novel FBN 2 mutation cosegregates with congenital contractural arachnodactyly in a five‐generation Chinese family

Zhou, Shiyuan ; Wang, Fengyu ; Dou, Yongheng ; Zhou, Jiping ; Hao, Gefang ; Xu, Chengqi ; Wang, Qing K ; Wang, Haili ; Wang, Pengyun

Clinical Case Reports, 2018, Vol.6(8), p.1612-1617 [Peer Reviewed Journal]

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A novel KRAS gene mutation report in sporadic colorectal cancer, from Northwest of Iran

Dolatkhah, Roya ; Somi, Mohammad Hossein ; Kermani, Iraj Asvadi ; Farassati, Faris ; Dastgiri, Saeed

Clinical Case Reports, 2017, Vol.5(3), p.338-341 [Peer Reviewed Journal]

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