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38135884,37781000,37663294,37183573,36896612,36759911,36460282,36347189,36243336,36195292,36052765,35981005,35906671,35871092,35670300,35504761,35305621,35304602,35301205,35210468,35189859,35181031,35156329,34877902,34605228,34569147,34022924,33834468,33663658,33107243,33040082,32813677,32376980,32065515,31658462,31413053,31145547,30971726,30657466,30653816,30608389,30534844,30092813,29855229,29779902,29739404,29537378,29081343,28815864,28777121,28738883,28716915,28694425,28216480,28103952,27869431,26852509,26518681,26367183,26349195,26238661,25912411,25827862,25804019,25618587,25608830,25463316,25424318,25327282,25259406,25257307,24690526,24551976,24376033,24194475,24039145,23724733,23666113,23610863,23608969,23301226,23290072,23188044,22959136,22789568,22659271,22581610,22522086,22482977,22303802,22161098,22139980,22088837,22086126,22085995,21857505,21815251,21722758,21674840,21671075,21354346,21344634,21249393,21063149,21042272,20949503,20817141,20803649,20738794,20583184,20383758,20082458,19842870,19841552,19732877,19576304,19473082,19380077,19161154,18947005,18947004,18658079,18581772,18313454,18273818,18262763,18056692,17764081,17716964,17230489,17163996,17100198,17024214,16797084,16770799,16595601,16586274,16411218,16376286,16339954,16329114,16317308,16278517,16158430,16095036,15988748,15957159,15941140,15658624,15637995,15633182,15517827,15372527,15264289,15124054,15103720,14755467,14754526,14708096,14564158,12966527,12920978,12749064,12684896,12673660,12641690,12558114,12510982,12476459,12101870,12079160,12012596,11889216,11889214,11836550,11755103,11715843,11701728,11424138,11241489,11232459,11206936,11078569,10925380,10910613,10826619,10756343,10746871,10607948,10590434,10482883,10431248,10412817,10071194,9826899,9783715,9783713,9637421,9526616,9415479,9373850,9327269,9321771,9084935,9021020,9021015,8989459,8937769,8882791,8882389,8870921,8849014,8737648,8723117,8641683,8599356,8588851,8540688,8357004,8209895,8110419,8074146,8064823,7889647,7815427,7815426,7756014,7747763,7710255,7671938,7645598,7565832,7499852,7444809,7422065,7398115,7395909,7395898,7358400,7277427,7273465,7241543,7197463,7195379,7036745,6974530,6974525,6971614,6928120,6837629,6718125,6655677,6655670,6624439,6609673,6529078,6524780,6490008,4042393,3993671,3963055,3955870,3901750,3881954,3879435,3734522,3720009,3692885,3605216,3565474,3564997,3561951,3544845,3470161,3409537,3378367,3314663,3258493,3105315,3055989,2966860,2714786,2355722,2285470,2285185,2094779,2080100,2063917,2015694,1999834,1920371,1872531,1844170,1790023,1787662,1746609,1456290,1391972,1300968,1296518,1261067,1218860,1184398,1139788,1084124,1084115,955625,933127,882920,881715,669698,511129,489007,437769,429004,416928,263448,192866,148983,24405880,38579908,38552883,38467043,38464407,38446271,38428672,38418200,38414514,38393510,38392247,38376065,38332451,38323103,38289771,38278178,38234950,38212959,38204316,38190471,38170224,38160441,38141596,38106694,38084183,38024778,37994646,37989370,37916641,37915702,37861519,37849572,37773110,37697343,37686463,37666215,37648992,37646116,37621196,37593311,37593262,37586562,37558144,37539833,37529518,37432374,37322997,37254627,37229238,37202178,37180977,37178334,37168018,37146686,37109611,37094412,37065638,37064342,37062595,37023066,36980410,36942046,36871920,36842460,36798639,36793621,36747908,36728509,36724813,36707021,36698518,36684136,36670527,36647124,36563674,36545008,36524507,36418608,36386537,36380707,36377269,36356675,36249524,36214450,36184100,36070845,36070802,35989825,35987507,35962710,35926793,35914799,35846898,35803461,35774454,35721869,35709854,35646169,35590434,35557519,35492295,35355974,35351409,35307130,35221243,35190561,35181880,35141041,35140187,35039883,34995716,34929241,34925842,34856856,34784454,34780964,34780390,34745834,34722094,34699410,34622699,34570673,34540437,34523018,34386353,34380476,34364756,34352312,34327165,34322329,34302520,34267546,34182873,34176943,34094886,34084598,34042569,34011774,33978806,33926341,33894861,33876896,33833930,33737271,33711903,33678413,33673770,33656743,33652056,33628526,33627033,33592291,33544891,33445950,33345927,33322973,33319968,33269897,33217604,33182750,33120446,33061024,33022679,33019837,33010142,32981206,32925761,32871652,32869729,32837938,32709467,32694552,32652274,32642857,32631724,32577060,32575132,32549708,32538203,32505054,32452286[uid]

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Tetraparesis following thoracic spine surgery in a patient with Klippel-Feil syndrome and ABCB4 mutation: a case report.

Da Broi M, Nouri A, Patet G, Paun L, Bartoli A, Molliqaj G, Schaller K, Tessitore E. Da Broi M, et al. J Med Case Rep. 2023 Dec 23;17(1):528. doi: 10.1186/s13256-023-04263-8. J Med Case Rep. 2023. PMID: 38135884 Free PMC article.

A Stop-gain Variant c.220C>T (p.(Gln74*)) in FLNB Segregates with Spondylocarpotarsal Synostosis Syndrome in a Consanguineous Family.

Shahid H, Shakoor N, Bibi A, Qazi AS, Saeed RF, Nawaz A, Malik S, Mumtaz S. Shahid H, et al. Yale J Biol Med. 2023 Sep 29;96(3):383-396. doi: 10.59249/UTCP9818. eCollection 2023 Sep. Yale J Biol Med. 2023. PMID: 37781000 Free PMC article. Review.

Lanspora dorisauae, a new marine fungus from rocky shores in Taiwan.

Pang KL, Guo SY, Shaumi A, Suetrong S, Klaysuban A, Chiang MWL, Jones EBG. Pang KL, et al. PeerJ. 2023 Aug 28;11:e15958. doi: 10.7717/peerj.15958. eCollection 2023. PeerJ. 2023. PMID: 37663294 Free PMC article.

Otaify GA, Elhossini RM, Abdel-Ghafar SF, Sayed IM, Abdel-Salam GMH, Aglan MS, Abdel-Hamid MS. Otaify GA, et al. Am J Med Genet A. 2023 Aug;191(8):2100-2112. doi: 10.1002/ajmg.a.63246. Epub 2023 May 14. Am J Med Genet A. 2023. PMID: 37183573

Al-Gazali Skeletal Dysplasia Constitutes the Lethal End of ADAMTSL2-Related Disorders.

Batkovskyte D, McKenzie F, Taylan F, Simsek-Kiper PO, Nikkel SM, Ohashi H, Stevenson RE, Ha T, Cavalcanti DP, Miyahara H, Skinner SA, Aguirre MA, Akçören Z, Utine GE, Chiu T, Shimizu K, Hammarsjö A, Boduroglu K, Moore HW, Louie RJ, Arts P, Merrihew AN, Babic M, Jackson MR, Papadogiannakis N, Lindstrand A, Nordgren A, Barnett CP, Scott HS, Chagin AS, Nishimura G, Grigelioniene G. Batkovskyte D, et al. J Bone Miner Res. 2023 May;38(5):692-706. doi: 10.1002/jbmr.4799. Epub 2023 Mar 27. J Bone Miner Res. 2023. PMID: 36896612 Free article.

New insights on partial trisomy 3q syndrome: de novo 3q27.1-q29 duplication in a newborn with pre and postnatal overgrowth and assisted reproductive conception.

Serra G, Antona V, Cimador M, Collodoro G, Guida M, Piro E, Schierz IAM, Verde V, Giuffrè M, Corsello G. Serra G, et al. Ital J Pediatr. 2023 Feb 9;49(1):17. doi: 10.1186/s13052-023-01421-y. Ital J Pediatr. 2023. PMID: 36759911 Free PMC article.

Clinical analysis of Noonan syndrome caused by RRAS2 mutations and literature review.

Yu C, Lyn N, Li D, Mei S, Liu L, Shang Q. Yu C, et al. Eur J Med Genet. 2023 Jan;66(1):104675. doi: 10.1016/j.ejmg.2022.104675. Epub 2022 Nov 30. Eur J Med Genet. 2023. PMID: 36460282 Review.

Morphological and molecular diversity of monothalamids (Rhizaria, Foraminifera), including two new species and a new genus, from SW Greenland.

Gooday AJ, Holzmann M, Schwarzgruber E, Cedhagen T, Pawlowski J. Gooday AJ, et al. Eur J Protistol. 2022 Oct;86:125932. doi: 10.1016/j.ejop.2022.125932. Epub 2022 Oct 17. Eur J Protistol. 2022. PMID: 36347189

Shohat type-spondyloepimetaphyseal dysplasia: Further phenotypic delineation.

Otaify GA, Al Baluki W, Al-Rashdi S, Al-Maawali A. Otaify GA, et al. Eur J Med Genet. 2022 Dec;65(12):104640. doi: 10.1016/j.ejmg.2022.104640. Epub 2022 Oct 13. Eur J Med Genet. 2022. PMID: 36243336

A lethal and rare cause of arthrogryposis: Glyt1 encephalopathy.

Daşar T, Şimşek-Kiper PÖ, Taşkıran EZ, Çağan M, Özyüncü Ö, Deren Ö, Utine GE, Güçer KŞ, Boduroğlu K. Daşar T, et al. Eur J Med Genet. 2022 Dec;65(12):104631. doi: 10.1016/j.ejmg.2022.104631. Epub 2022 Oct 3. Eur J Med Genet. 2022. PMID: 36195292

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