標(biāo)題: Titlebook: Atlas of Genetic Diagnosis and Counseling; Harold Chen Book 2006Latest edition Humana Press 2006 [打印本頁(yè)] 作者: Body-Mass-Index 時(shí)間: 2025-3-21 17:13
書(shū)目名稱(chēng)Atlas of Genetic Diagnosis and Counseling影響因子(影響力)
書(shū)目名稱(chēng)Atlas of Genetic Diagnosis and Counseling影響因子(影響力)學(xué)科排名
書(shū)目名稱(chēng)Atlas of Genetic Diagnosis and Counseling網(wǎng)絡(luò)公開(kāi)度
書(shū)目名稱(chēng)Atlas of Genetic Diagnosis and Counseling網(wǎng)絡(luò)公開(kāi)度學(xué)科排名
書(shū)目名稱(chēng)Atlas of Genetic Diagnosis and Counseling被引頻次
書(shū)目名稱(chēng)Atlas of Genetic Diagnosis and Counseling被引頻次學(xué)科排名
書(shū)目名稱(chēng)Atlas of Genetic Diagnosis and Counseling年度引用
書(shū)目名稱(chēng)Atlas of Genetic Diagnosis and Counseling年度引用學(xué)科排名
書(shū)目名稱(chēng)Atlas of Genetic Diagnosis and Counseling讀者反饋
書(shū)目名稱(chēng)Atlas of Genetic Diagnosis and Counseling讀者反饋學(xué)科排名
作者: myopia 時(shí)間: 2025-3-21 22:45 作者: 斷言 時(shí)間: 2025-3-22 00:47
https://doi.org/10.1007/978-1-84628-955-2 arterial perfusion (TRAP) syndrome or sequence. This condition is very rare and occurs 1 in 35,000 deliveries, 1 in 100 monozygotic twins, rarely in triplet pregnancy, and even in quintuplet gestations.作者: 鳴叫 時(shí)間: 2025-3-22 06:58 作者: LAITY 時(shí)間: 2025-3-22 11:30 作者: Middle-Ear 時(shí)間: 2025-3-22 16:16 作者: 合并 時(shí)間: 2025-3-22 18:17 作者: 調(diào)情 時(shí)間: 2025-3-22 21:43 作者: Spina-Bifida 時(shí)間: 2025-3-23 05:17 作者: vasospasm 時(shí)間: 2025-3-23 06:25 作者: insurrection 時(shí)間: 2025-3-23 10:55 作者: Intractable 時(shí)間: 2025-3-23 17:23
Acardia, arterial perfusion (TRAP) syndrome or sequence. This condition is very rare and occurs 1 in 35,000 deliveries, 1 in 100 monozygotic twins, rarely in triplet pregnancy, and even in quintuplet gestations.作者: sigmoid-colon 時(shí)間: 2025-3-23 19:40
Achondroplasia,oplasts in the USA and 65,000 on Earth. The incidence for achondroplasia is between 0.5 and 1.5 in 10,000 births. The mutation rate is high and is estimated to be between 1.72×10. and 5.57×10. per gamete per generation. Most infants with achondroplasia are born unexpectedly to parents of average stature.作者: Crepitus 時(shí)間: 2025-3-24 01:46 作者: 固定某物 時(shí)間: 2025-3-24 06:20
Androgen Insensitivity Syndrome,syndrome was first described by Morris in 1953 who coined the term testicular feminization syndrome, based on the observation of the complete absence of signs of virilization in phenotypic females with testes and a 46,XY karyotype.作者: 不能約 時(shí)間: 2025-3-24 10:08
Aplasia Cutis Congenita,group of disorders characterized by absence of epidermis, dermis, and, sometimes, subcutaneous tissue, muscle, or bone on one or more parts of the body. The incidence is estimated to be 1 in 10,000 births.作者: Generic-Drug 時(shí)間: 2025-3-24 11:38
Ataxia Telangiectasia,ary infections, radiosensitivity, and a predisposition to malignancy. It is the most common cause of progressive cerebellar ataxia in childhood. The prevalence is estimated to be 1 in 40,000 to 1 in 100,000 live births.作者: 脫水 時(shí)間: 2025-3-24 16:57
Beckwith-Wiedemann Syndrome,scribed three unrelated patients with exomphalos, hyperplasia of the kidneys and pancreas, and adrenal cytomegaly. Wiedemann in 1964 reported a familial form of omphalocele with macroglossia. The incidence is estimated to be about 1 in 13,700 births.作者: 微不足道 時(shí)間: 2025-3-24 23:01
https://doi.org/10.1007/978-1-84628-955-2 arterial perfusion (TRAP) syndrome or sequence. This condition is very rare and occurs 1 in 35,000 deliveries, 1 in 100 monozygotic twins, rarely in triplet pregnancy, and even in quintuplet gestations.作者: 取消 時(shí)間: 2025-3-25 02:23 作者: Spinal-Fusion 時(shí)間: 2025-3-25 03:46 作者: absorbed 時(shí)間: 2025-3-25 07:30
Jining Zhao,Chunxiang Xu,Kefei Chensyndrome was first described by Morris in 1953 who coined the term testicular feminization syndrome, based on the observation of the complete absence of signs of virilization in phenotypic females with testes and a 46,XY karyotype.作者: sulcus 時(shí)間: 2025-3-25 13:27 作者: 誹謗 時(shí)間: 2025-3-25 16:19 作者: deviate 時(shí)間: 2025-3-25 21:14
Yu Wang,Haomiao Yang,Jiasheng Li,Mengyu Gescribed three unrelated patients with exomphalos, hyperplasia of the kidneys and pancreas, and adrenal cytomegaly. Wiedemann in 1964 reported a familial form of omphalocele with macroglossia. The incidence is estimated to be about 1 in 13,700 births.作者: 收養(yǎng) 時(shí)間: 2025-3-26 00:08
Harold ChenIncludes supplementary material: 作者: GRACE 時(shí)間: 2025-3-26 06:45 作者: Chipmunk 時(shí)間: 2025-3-26 11:56
Bohao Jiang,Chaoyang Li,Yu Tang,Xiangjun XinIn 1945, Adams and Oliver described congenital transverse limb defects associated with aplasia cutis congenita in a three-generation kindred with typical autosomal dominant inheritance and intrafamilial variable expressivity.作者: GRIPE 時(shí)間: 2025-3-26 13:46 作者: 我悲傷 時(shí)間: 2025-3-26 19:51 作者: 反省 時(shí)間: 2025-3-26 21:26 作者: Subdue 時(shí)間: 2025-3-27 03:06
Peng Zhang,Juntao Gao,Wenjuan Jia,Xuelian LiAmniotic band syndrome occurs in one of every 5000 to 15,000 births and had been demonstrated in 1–2% of malformed infants.作者: orthodox 時(shí)間: 2025-3-27 07:20
Xi Luo,Chunjie Cao,Longjuan WangArthrogryposis multiplex congenita comprises nonprogressive conditions characterized by multiple joint contractures throughout the body at birth. The term encompasses a very heterogeneous group of disorders having the common feature of multiple congenital joint contractures. The frequency is approximately 1 in 3000 live births.作者: HALL 時(shí)間: 2025-3-27 10:02
Xi Luo,Chunjie Cao,Longjuan WangIn 1955, Jeune et al. described familial asphyxiating thoracic dystrophy (ATD) in a pair of siblings with severely narrow thoraxes. This condition is also known as Jeune syndrome. Incidence is estimated at 1 per 100,000–130,000 live births.作者: 窩轉(zhuǎn)脊椎動(dòng)物 時(shí)間: 2025-3-27 13:36
GWDGA: An Effective Adversarial DGAIn 1982, Maroteaux et al. proposed the term “atelosteogenesis” for a newborn skeletal dysplasia characterized by specific patterns of aplasia/hypoplasia of humeri, femora, spine, and other skeletal elements. Atelosteogenesis encompasses a heterogeneous group of disorders with overlapping phenotypic features.作者: 榨取 時(shí)間: 2025-3-27 19:52
Xi Luo,Chunjie Cao,Longjuan WangAutism is a pervasive developmental disorder, defined by impairments in social and communication function, and repetitive and stereotyped behavioral patterns. It occurs in approximately 7–40 out of 10,000 persons.作者: Osteoarthritis 時(shí)間: 2025-3-27 22:06
Adams-Oliver Syndrome,In 1945, Adams and Oliver described congenital transverse limb defects associated with aplasia cutis congenita in a three-generation kindred with typical autosomal dominant inheritance and intrafamilial variable expressivity.作者: MAIZE 時(shí)間: 2025-3-28 02:29 作者: cancellous-bone 時(shí)間: 2025-3-28 10:13
Aicardi Syndrome,In 1965, Aicardi et al. reported a new syndrome consisting of spasms in flexion, callosal agenesis, and ocular abnormalities. Actual frequency of the condition is not known, but about 1–4% of cases of infantile spasms from tertiary referral centers may be due to Aicardi syndrome.作者: ELUC 時(shí)間: 2025-3-28 13:04
Albinism,Albinism refers to a group of inherited abnormalities of melanin synthesis resulting in congenital hypopigmentation. It involves the skin, hair, and eyes (oculocutaneous albinism) or may be limited primarily to the eyes (ocular albinism). The estimated frequency of affected individuals in the USA is approximately 1/17,000.作者: Scintillations 時(shí)間: 2025-3-28 16:41 作者: 脫落 時(shí)間: 2025-3-28 21:36
Arthrogryposis Multiplex Congenita,Arthrogryposis multiplex congenita comprises nonprogressive conditions characterized by multiple joint contractures throughout the body at birth. The term encompasses a very heterogeneous group of disorders having the common feature of multiple congenital joint contractures. The frequency is approximately 1 in 3000 live births.作者: BIPED 時(shí)間: 2025-3-29 01:38 作者: 使長(zhǎng)胖 時(shí)間: 2025-3-29 03:31
Atelosteogenesis,In 1982, Maroteaux et al. proposed the term “atelosteogenesis” for a newborn skeletal dysplasia characterized by specific patterns of aplasia/hypoplasia of humeri, femora, spine, and other skeletal elements. Atelosteogenesis encompasses a heterogeneous group of disorders with overlapping phenotypic features.作者: 條街道往前推 時(shí)間: 2025-3-29 08:04
Autism,Autism is a pervasive developmental disorder, defined by impairments in social and communication function, and repetitive and stereotyped behavioral patterns. It occurs in approximately 7–40 out of 10,000 persons.作者: INCH 時(shí)間: 2025-3-29 14:38 作者: 恃強(qiáng)凌弱的人 時(shí)間: 2025-3-29 16:02
Achondrogenesis,ormal cartilage matrix. Classification of type IB as a separate group has been confirmed recently by the discovery of its association with mutations in the diastrophic dysplasia sulfate transporter (.) gene, making it allelic with diastrophic dysplasia.作者: 侵蝕 時(shí)間: 2025-3-29 20:41 作者: Judicious 時(shí)間: 2025-3-30 00:47 作者: AGATE 時(shí)間: 2025-3-30 05:06
Apert Syndrome, feet. It probably is the most familiar and best-described type of acrocephalosyndactyly. Prevalence is estimated at 1 in 65,000 (approximately 15.5 in 1,000,000) live births. Apert syndrome accounts for 4.5% of all cases of craniosynostosis.作者: CLOT 時(shí)間: 2025-3-30 08:40 作者: Boycott 時(shí)間: 2025-3-30 14:12 作者: 易改變 時(shí)間: 2025-3-30 19:12 作者: 思考才皺眉 時(shí)間: 2025-3-30 21:51
Achondroplasia,oplasts in the USA and 65,000 on Earth. The incidence for achondroplasia is between 0.5 and 1.5 in 10,000 births. The mutation rate is high and is estimated to be between 1.72×10. and 5.57×10. per gamete per generation. Most infants with achondroplasia are born unexpectedly to parents of average sta作者: 外向者 時(shí)間: 2025-3-31 01:54
Alagille Syndrome,nary stenosis, butterfly-like vertebral arch defect, posterior embryotoxon, and peculiar facies. The syndrome is also known as arteriohepatic dysplasia. Alagille syndrome occurs in approximately 1 in 100,000 live births.作者: 氣候 時(shí)間: 2025-3-31 08:20 作者: Sarcoma 時(shí)間: 2025-3-31 12:55 作者: 光明正大 時(shí)間: 2025-3-31 15:07
Aplasia Cutis Congenita,group of disorders characterized by absence of epidermis, dermis, and, sometimes, subcutaneous tissue, muscle, or bone on one or more parts of the body. The incidence is estimated to be 1 in 10,000 births.作者: 避開(kāi) 時(shí)間: 2025-3-31 18:17 作者: 抱狗不敢前 時(shí)間: 2025-4-1 00:47
Beckwith-Wiedemann Syndrome,scribed three unrelated patients with exomphalos, hyperplasia of the kidneys and pancreas, and adrenal cytomegaly. Wiedemann in 1964 reported a familial form of omphalocele with macroglossia. The incidence is estimated to be about 1 in 13,700 births.作者: 種屬關(guān)系 時(shí)間: 2025-4-1 03:25
Book 2021tives on the benefits and challenges of the flexible workplace phenomena. Topics discussed range from defining and comparing flexible, coworking and corpoworking spaces, policies made in local environments, and the flexible working taxonomy..?.作者: 開(kāi)頭 時(shí)間: 2025-4-1 08:44 作者: Synthesize 時(shí)間: 2025-4-1 12:29
Holger SchunkFor her “No” to patriarchy, Agatha had to endure the torture of the removal of her breasts. In the present moment, the tattoos in place of breasts on women’s post-mastectomy chests express exactly that: an inner strength, a breast turned “inward.” This chapter examines the discourse that envisions t作者: 神秘 時(shí)間: 2025-4-1 16:10
Stephanie Jonesple, highlights how socio-spatial segregation in S?o Paulo and Buenos Aires can be fundamentally linked to its seemingly anti-thesis, participatory democracy, while Navarro’s chapter explores the integration between the illegal drugs market and the legal urban real estate market in Bolivian cities.作者: Corral 時(shí)間: 2025-4-1 20:55
The Role of Education for Future Women Leader in Logistics ScenarioThis education model was designed accordingly by WCBC with reference to the WiLAT survey summary. Hence, the determinant factors on limitations and challenges were derived from these women in logistics perspective. The prerequisite for women to be prepared with this essential education is crucial fo作者: 尋找 時(shí)間: 2025-4-1 23:02 作者: REP 時(shí)間: 2025-4-2 06:17 作者: semble 時(shí)間: 2025-4-2 09:39
